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Afr J Pharm Res Dev (AJOPRED) ; 16(1): 39-49, 2024. figures, tables
Article in English | AIM | ID: biblio-1553329


The burden of epilepsy in developing countries made medicinal plants like Xylopia aethiopica fruit; Khaya grandifoliola, Alstonia boonei etc an alternative source in epilepsy management in the south-western part of Nigeria. The aim of the study was to provide pharmacological rationale for the ethnomedicinal use of the plants in epilepsy management. The oral medial lethal dose of methanol stem bark extracts of Alstonia boonei (MEAB) and Khaya grandifoliola (MEKG) and methanol fruit extract of Xylopia aethiopica (MEXAF) were done in accordance with the Organization for Economic Cooperation Development guideline. Quantitative and qualitative phytochemical profiling of the extracts was done. Anticonvulsant screening was carried out on the extracts (doses: 75, 150 and 300 mg/kg) using the pentylenetetrazole (PTZ)-induced seizure and maximum electroshock tests (MEST). Results showed that the MEXAF has the highest amount of phytochemicals except for saponins in MEKG; and MEAB with the least amount (but higher alkaloid) than MEKG. The TLC showed different bands of spots of the extracts. In the PTZ test, MEXAF showed 100 % protection against mortality at 300 mg/kg; MEAB with 66.67 % protection at 75 mg/kg and MEKG 0 % protection. MEAB, MEKG and MEXAF nonsignificantly increased the onset of seizure and latency to death. In the MEST, MEXAF, MEKG and MEAB at 75 mg/kg protected 50, 33.3 and 16.67% of the animals against tonic hind limb extension respectively and nonsignificantly (p˃0.05) decreased the recovery time at a dose of 75 mg/kg. It was concluded that the extracts possess anticonvulsant activities hence, the pharmacological credence for the ethnomedicinal use of these plants in treating epilepsy.

Seizures , Plant Extracts , Alstonia , Diagnosis , Epilepsy , Xylopia , Anticonvulsants , Plants, Medicinal , Prevalence , Meliaceae , Phytochemicals
Neuroscience Bulletin ; (6): 147-156, 2024.
Article in English | WPRIM | ID: wpr-1010679


The prefrontal cortex and hippocampus may support sequential working memory beyond episodic memory and spatial navigation. This stereoelectroencephalography (SEEG) study investigated how the dorsolateral prefrontal cortex (DLPFC) interacts with the hippocampus in the online processing of sequential information. Twenty patients with epilepsy (eight women, age 27.6 ± 8.2 years) completed a line ordering task with SEEG recordings over the DLPFC and the hippocampus. Participants showed longer thinking times and more recall errors when asked to arrange random lines clockwise (random trials) than to maintain ordered lines (ordered trials) before recalling the orientation of a particular line. First, the ordering-related increase in thinking time and recall error was associated with a transient theta power increase in the hippocampus and a sustained theta power increase in the DLPFC (3-10 Hz). In particular, the hippocampal theta power increase correlated with the memory precision of line orientation. Second, theta phase coherences between the DLPFC and hippocampus were enhanced for ordering, especially for more precisely memorized lines. Third, the theta band DLPFC → hippocampus influence was selectively enhanced for ordering, especially for more precisely memorized lines. This study suggests that theta oscillations may support DLPFC-hippocampal interactions in the online processing of sequential information.

Adult , Female , Humans , Young Adult , Male , Epilepsy , Hippocampus , Memory, Short-Term , Mental Recall , Prefrontal Cortex , Theta Rhythm
Chinese Journal of Medical Genetics ; (6): 25-31, 2024.
Article in Chinese | WPRIM | ID: wpr-1009348


OBJECTIVE@#To explore the early neurodevelopmental features of young children with SYNGAP1 variants and their genotype-phenotype correlation.@*METHODS@#Young children with neurodevelopmental disorders (NDDs) (< 5 years old) who were referred to the Children's Hospital Affiliated to the Capital Institute of Pediatrics between January 2019 and July 2022 were selected as the study subjects. All children had undergone whole-exome sequencing, comprehensive pediatric neuropsychological assessment, familial segregation analysis, and pathogenicity classification. Meanwhile, young Chinese NDD children (< 5 years old) with pathogenic/likely pathogenic SYNGAP1 variants were retrieved from the literature, with information including detailed clinical and genetic testing, neurodevelopmental quotient (DQ) of the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). Children who did not have a detailed DQ but had their developmental status assessed by a medical professional were also included. The correlation between neurodevelopmental severity, comorbidity and SYNGAP1 variants were summarized.@*RESULTS@#Four young NDD children carrying SYNGAP1 variants were recruited (1 male and 3 females, with a mean age of 34.0 ± 18.2 months), among whom one harboring a novel variant (c.437C>G, p.S146*). Combined with 19 similar cases retrieved from the literature, 23 Chinese NDD young children were included in our study (8 males and 10 females, 5 with unknown sex, with a mean age of 37.1 ± 14.2 months). A loss of function (LOF) variant was found in 19 (82.6%) children. All of the children had presented global developmental delay (GDD) before the age of two. In addition, 16 (69.6%) had seizure/epilepsy at the age of 27.0 ± 12.1 months, among whom 15 had occurred independent of the global developmental delay. Myoclonic and absence were common types of seizures. Compared with those with variants of exons 8 to 15, the severity of developmental delay was milder among children with variants in exons 1 to 5.@*CONCLUSION@#The early neurodevelopment features of the SYNGAP1 variants for young children (< 5 years old) have included global developmental delay and seizure/epilepsy. All of the children may present GDD before the age of two. The severity of developmental delay may be related to the type and location of the SYNGAP1 variants.

Child, Preschool , Female , Humans , Infant , Male , Epilepsy/genetics , Genetic Testing , Genotype , Neurodevelopmental Disorders/genetics , ras GTPase-Activating Proteins/genetics , Seizures/genetics
REVISA (Online) ; 13(1): 102-113, 2024.
Article in Portuguese | LILACS | ID: biblio-1531982


Objetivo:Compreender o cenário atual da ELT-HS, caracterizado por sua fisiopatologia, manifestações clínicas, métodos diagnósticos e tratamentos. Método:Trata-se de uma revisão integrativa da literatura, com caráter descritivo, de artigos indexados no Sistema de Análise e Recuperação da Literatura Médica Online MEDLINE/Pubmed, Literatura Latino-Americana e do Caribe em Ciências da Saúde LILACS, e nas bases de dados Científicas Electronic Library Online (SciELO), pesquisados na período compreendido entre outubro de 2022 e março de 2023. Foram incluídos artigos em português e inglês que contemplassem os objetivos da revisão, publicados nos últimos dez anos (2011-2021).Resultados: Inicialmente foram encontrados 144 artigos nas bases de dados, que após a leitura, foramselecionados na pesquisa 40 artigos que correspondiam ao objetivo proposto. Os artigos analisados correspondem aos anos de 2011 a 2021. Conclusão:O tratamento cirúrgico da ELT-HS tem se mostrado eficaz para resolução completa das crises na maioria dos pacientes. O conhecimento sobre sua fisiopatologia, manifestações clínicas, diagnóstico e tratamentos são de fundamental importância para os médicos que atendem pacientes com epilepsia.

Objective: To understand the current scenario of TLE-HS, characterized by its pathophysiology, clinical manifestations, diagnostic methods and treatments. Method:This is an integrative literature review with descriptive character, of articles indexed in the Medical Literature Analysis And Retrieval System Online MEDLINE/Pubmed, Latin American and Caribbean Literature in Health Sciences LILACS, and Scientic databases Electronic Library Online (SciELO), researched in the period between october 2022 and march 2023. Articles in Portuguese and English that contemplated the objectives of the review, published in the last ten years (2011-2021), were included. Results:Initially, 144 articles were found in the databases, which after reading, 40 articles were selected in the research that corresponded to the proposed objective. The articles analyzed are equivalent to the years 2011 to 2021. Conclusion:The surgical treatment of TLE-HS has been shown to be effective for the complete resolution of crises in most patients. Knowledge about its pathophysiology, clinical manifestations, diagnosis and treatments are of fundamental importance for physicians who treat patients with epilepsy

Objetivo: Comprender el escenario actual de la TLE-HS, caracterizado por su fisiopatología, manifestaciones clínicas, métodos diagnósticos y tratamientos. Método: Se trata de una revisión bibliográfica integradora con carácter descriptivo, de artículos indexados en el Sistema de Análisis y Recuperación de Literatura Médica en Línea MEDLINE/Pubmed, Literatura Latinoamericana y del Caribe en Ciencias de la Salud LILACS, y bases de datos Scientic Electronic Library Online (SciELO), investigados en el período comprendido entre octubre de 2022 y marzo de 2023. Se incluyeron artículos en portugués e inglés que contemplaran los objetivos de la revisión, publicados en los últimos diez años (2011-2021). Resultados:Inicialmente se encontraron 144 artículos en las bases de datos, de los cuales luego de la lectura se seleccionaron 40 artículos en la investigación que correspondía al objetivo propuesto. Los artículos analizadoscorresponden a los años 2011 a 2021. Conclusión:El tratamiento quirúrgico del ELT-HS se ha mostrado eficaz para la resolución completa de las crisis en la mayoría de los pacientes. El conocimiento sobre su fisiopatología, manifestaciones clínicas, diagnóstico y tratamientos es de fundamental importancia para los médicos que tratan pacientes con epilepsia

Epilepsy, Temporal Lobe , Epilepsy , Hippocampal Sclerosis
Acta neurol. colomb ; 39(4)dic. 2023.
Article in Spanish | LILACS | ID: biblio-1533508


Introducción: La epilepsia es un desorden caracterizado por la predisposición a generar crisis epilépticas, mientras que el síndrome de apnea del sueño (SAOS) ha sido reconocido como un desorden crónico de colapso intermitente de la vía aérea que genera hipoxia recurrente. En este trabajo se aplicó la escala de trastornos del sueño (Sleep Apnea Scale of the Sleep Disorders Questionnaire SA-SDQ), previamente validada en inglés para pacientes con epilepsia, a fin de determinar su capacidad para detectar apnea de sueño en nuestra población. Materiales y métodos: En una primera etapa se realizó la adaptación transcultural de la escala SA-SDQ en castellano, provista por los autores, al español colombiano. Luego se recopiló la información de los pacientes en quienes se realizó polisomnografía entre mayo y agosto del 2022 y se determinó el valor de corte para diagnosticar SAOS con la escala SA-SDQ. Resultados: Cuarenta pacientes pudieron realizarse la polisomnografía, de los cuales 30 (75 %) tuvieron índices de apnea-hipopnea superiores a 5, lo que indica SAOS. El área bajo la curva fue 0,790 y la puntuación SA-SDQ de 21 proporcionó una sensibilidad del 73,3 % (IC 53,83-87,02 %) y una especificidad del 80 % (IC 44,2-96,5 %). La consistencia interna fue aceptable (α = 0,713). Conclusiones: La escala SA-SDQ es un instrumento útil para tamizar SAOS en la población colombiana que padece epilepsia. Nuestros resultados indican que los puntos de corte sugeridos anteriormente (2936 para hombres y 26-32 para mujeres) pueden ser demasiado altos para nuestra población. Sugerimos un punto de corte de 21 para ambos.

Introduction: Epilepsy is a disorder characterized by a predisposition to have epileptic seizures, while sleep apnea syndrome (OSAS) has been recognized as a chronic disorder of intermittent collapse of the airway that generates recurrent hypoxia. In this work, the sleep disorders scale (SA-SDQ) previously validated in English for patients with epilepsy was applied to determine its ability to detect sleep apnea in our population. Materials and methods: In the first stage, the cross-cultural adaptation of the SA-SDQ scale in Spanish provided by the authors was carried out into Colombian Spanish. then the information of the patients in whom polysomnography was performed between May and August 2022 was collected and the cut-off value was determined to diagnose OSAS with the SA-SDQ scale. Results: 40 patients were able to undergo polysomnography, of which 30 (75 %) had apnea-hypopnea indices greater than five, indicating OSAS. The area under the curve was 0.790 and the SA-SDQ score of 21 provided a sensitivity of 73.3 % (CI 53.83-87.02 %) and a specificity of 80 % (CI 44.2-96, 5 %). The internal consistency was acceptable (α = 0.713). Conclusions: The SA-SDQ scale is a useful instrument for screening OSAS in the Colombian population suffering from epilepsy. Our results indicate that the previously suggested cut-off points (29-36 for men and 26-32 for women) may be too high in our population. We suggest a cutoff of 21 for both.

Sleep Apnea, Obstructive , Sleep Disorders, Circadian Rhythm , Sleep Initiation and Maintenance Disorders , Epilepsy , Drug Resistant Epilepsy
Med. UIS ; 36(2)ago. 2023.
Article in Spanish | LILACS | ID: biblio-1534840


El Síndrome de Ramsay Hunt es una entidad infrecuente, con una incidencia de 5 por cada 100.000 personas por año. Esta condición se caracteriza por una reactivación del virus de la varicela-zoster en el nervio facial. Su diagnóstico implica un reto para el médico puesto que suele ser netamente clínico, con la aparición de una triada consistente en: otalgia, parálisis facial ipsilateral y vesículas en el canal auditivo. El objetivo del artículo es presentar el caso de una mujer de 49 años de edad, con antecedente de epilepsia en tratamiento anticonvulsivante, quien ingresa con la triada clínica antes descrita, asociada a visión borrosa derecha y vértigo. La paciente fue tratada con antivirales y corticoides orales, presentando una resolución clínica favorable dado una reducción de más del 50% de las lesiones cutáneas. No se identificaron diferencias respecto a la presentación clínica de este síndrome al compararse con pacientes no epilépticos.

Ramsay Hunt Syndrome is a rare entity, with an incidence of 5 per 100,000 people per year. This condition is characterized by a reactivation of the varicella-zoster virus in the facial nerve. Its diagnosis implies a challenge for the physician since it is usually a clinical diagnosis, with the appearance of a clinical triad consisting of: otalgia, ipsilateral facial paralysis and vesicles in the ear canal. The objective of the article is to present the case of a 49-year-old woman, with a history of epilepsy receiving anticonvulsant treatment, who was admitted with the aforementioned clinical triad, associated with blurred right vision and vertigo. The patient was treated with oral antiviral management and oral corticosteroids, presenting a favorable clinical resolution given a reduction of more than 50% of the skin lesions. No differences were identified regarding the clinical presentation of this syndrome when compared with non-epileptic patients.

Humans , Female , Middle Aged , Herpes Zoster Oticus , Facial Paralysis , Varicella Zoster Virus Infection , Herpesvirus 3, Human , Epilepsy , Herpes Zoster
Fronteiras na Neurociência ; 17(0): 1-7, 27/07/2023.
Article in English | LILACS, SES-RJ | ID: biblio-1451498


Vagus nerve stimulation (VNS) therapy is an established treatment for patients with drug-resistant epilepsy that reduces seizure frequency by at least 50% in approximately half of patients; however, the characteristics of the patients with the best response have not yet been identified. Thus, it is important to identify the profile of patients who would have the best response to guide early indications and better patient selection.

A terapia com estimulação do nervo vago (ENV) é um tratamento estabelecido para pacientes com epilepsia resistente a medicamentos que reduz a frequência de crises em pelo menos 50% em aproximadamente metade dos pacientes; entretanto, as características dos pacientes com melhor resposta ainda não foram identificadas. Assim, é importante identificar o perfil de pacientes que teriam melhor resposta para orientar indicações precoces e melhor seleção de pacientes.

Neurosciences , Epilepsy , Vagus Nerve Stimulation , Drug Resistant Epilepsy , Seizures , Therapeutics
Femina ; 51(6): 368-373, 20230630. ilus
Article in Portuguese | LILACS | ID: biblio-1512424


A decisão de escolha do método contraceptivo em situações clínicas especiais é desafiadora tanto para médicos quanto para pacientes. Em parte, isso se deve às contraindicações reais que alguns contraceptivos apresentam. Porém, há uma estreita relação com a falta de conhecimento e medo de muitos profissionais em prescrever métodos que, na realidade, são seguros. A má escolha do método contraceptivo para pacientes portadoras de condições específicas pode levar a diversos desfechos ruins, como piora da condição de base, ocorrência de eventos adversos indesejáveis e preveníveis e ocorrência de gravidez de alto risco indesejada. Dessa forma, foi realizada uma revisão na literatura com o objetivo de auxiliar profissionais médicos na decisão contraceptiva de pacientes portadoras de doenças reumatológicas e musculoesqueléticas, epilepsia, esclerose múltipla, transtornos alimentares, anemia falciforme e obesidade, e que já foram submetidas a cirurgia bariátrica.(AU)

The decision to choose the contraceptive method in special clinical situations is challenging for both physicians and patients. In part, this is due to the real contraindications that some contraceptives present. However, there is a close relationship with the lack of knowledge and fear of many professionals in prescribing methods that are actually safe. The poor choice of contraceptive method in patients with specific conditions can lead to several bad outcomes, such as worsening of the baseline condition, occurrence of undesirable and preventable adverse events and occurrence of an unwanted high-risk pregnancy. Thus, a literature review was carried out in order to assist medical professionals in the contraceptive decision of patients with rheumatological and musculoskeletal diseases, epilepsy, multiple sclerosis, eating disorders, sickle cell anemia, obesity and who have already undergone bariatric surgery.(AU)

Humans , Female , Pregnancy , Contraception/adverse effects , Contraception/methods , Rheumatic Diseases , Women's Health , Health Personnel , Epilepsy , Family Development Planning
Article in Spanish | LILACS | ID: biblio-1433900


La Liga Chilena contra la Epilepsia (LICHE), es una corporación sin fines de lucro, dedicada a apoyar a los pacientes con epilepsia y su entorno, educar en epilepsia, solidarizar con ellos en los aspectos psicosociales y socioeconómicos, procurándoles una mejor calidad de vida. Es parte del capítulo del International Bureau for Epilepsy (IBE). Cumple 70 años de labor y en este artículo se expone su historia y trayectoria, siendo un ejemplo mundial de manejo integral de pacientes con epilepsia y el impacto en la comunidad.

The Chilean League against Epilepsy (LICHE), a non-profit corporation, dedicated to supporting patients with epilepsy and their environment, educating in epilepsy, solidarity with them in psychosocial and socioeconomic aspects, worrying about a better quality of life. It is part of the chapter of the International Bureau for Epilepsy (IBE). It celebrates 70 years of work and this article exposes its history and trajectory, being a world example of integral management of patients with epilepsy and the impact on the community

Humans , Organizations/organization & administration , Epilepsy/prevention & control , Epilepsy/epidemiology , Chile/epidemiology , Health Education
Acta neurol. colomb ; 39(1): 14-19, ene.-mar. 2023. tab
Article in Spanish | LILACS | ID: biblio-1429569


RESUMEN INTRODUCCIÓN: La neurocisticercosis es una infección del sistema nervioso central causada por el estadio larvario del cestodo Taenia solium, y se estima que puede ocasionar hasta 30% de los casos de epilepsia en los países donde esta parasitosis es endémica. El objetivo de este estudio fue determinar la frecuencia de pacientes que presentaron epilepsia como secuela de neurocisticercosis en un hospital universitario en Popayán. MATERIALES Y MÉTODOS: Se realizó un estudio retrospectivo con todos los pacientes con diagnóstico de neurocisticercosis que ingresaron al Hospital Universitario San José entre enero 2014 y diciembre 2018 que cumplieron los criterios de inclusión. RESULTADOS: Se encontraron 50 pacientes, de estos, 40 (80%) reingresaron, encontrándose que 37 (74%) presentaron epilepsia como secuela. Las edades más afectadas fueron la de 41 a 60 años; 48 (96%) provenían del departamento del Cauca en especial de Mercaderes, y 33 (66%) de área rural. El síndrome convulsivo fue la manifestación clínica de ingreso más frecuente. La TAC fue la técnica de imagen de elección. CONCLUSIÓN: El departamento del Cauca se considera como una de las áreas endémicas para neurocisticercosis en Colombia, y la epilepsia secundaria es un secuela común.

ABSTRACT INTRODUCTION: Neurocysticercosis is an infection of the central nervous system caused by the larval stage of the cestode Taenia solium, it has been estimated to produce up to 30% of the cases in countries where this parasitosis is endemic. The objective of this study was to determine the frequency of patients who presented epilepsy as a sequel of neurocysticercosis in a university hospital in Popayán. MATERIALS AND METHODS: A retrospective study was conducted with all patients with a diagnosis of neurocysticercosis who were admitted to the Hospital Universitario San José between January 2014 and December 2018 who met the inclusion criteria. RESULTS: We found 50 patients, 40 (80%) of which were readmitted and 37 (74%) presented epilepsy as sequela. The most affected age-group was 41 to 60 years; 48 (96%) were from the department of Cauca, especially Mercaderes, and 33 (66%) from rural areas. Convulsive syndrome was the most frequent clinical manifestation on admission. CT was the imaging technique of choice. CONCLUSION: The department of Cauca is considered as an endemic area for neurocysticercosis, and secondary epilepsy was a common consequence.

Neurocysticercosis , Epilepsy , Seizures , Taenia solium , Helminths
Arch. argent. pediatr ; 121(1): e202202677, feb. 2023. tab, graf, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1413008


El síndrome de deficiencia del transportador de glucosa tipo 1 es una enfermedad de causa genética, que involucra el gen SLC2A1. En general, se presenta durante los primeros años de vida con retraso en la adquisición de pautas madurativas, epilepsia farmacorresistente y desórdenes del movimiento. La clínica y la disminución de glucosa en líquido cefalorraquídeo permiten sospechar el diagnóstico, el cual debe ser confirmado mediante el estudio molecular del gen SLC2A1. Debido a que se trata de una enfermedad poco frecuente y de expresión clínica variable, el diagnóstico precoz suele representar un desafío para los equipos de salud. Este es importante, ya que la implementación de la terapia cetogénica logra controlar las manifestaciones clínicas y mejora el pronóstico a largo plazo. Presentamos una revisión sobre el déficit del transportador de glucosa tipo 1, que abarca sus características clínicas, bioquímicas, moleculares y terapéuticas.

Glucose transporter type 1 deficiency with a typical onset is a genetic disorder associated with the SLC2A1 gene. Usually appears during the first years of life with severe developmental delay, drugresistant epilepsy, and movement disorders. Diagnosis is suspected based on clinical manifestations and a low glucose level in cerebrospinal fluid, and should be confirmed by the molecular genetic study of the SLC2A1 gene. As it is a rare disease with variable clinical expression, early diagnosis is often challenging for the healthcare team. Nevertheless, this is important because early implementation of ketogenic therapy will lead to control of the clinical manifestations and a better long-term prognosis. Here we review the glucose transporter type 1 deficiency syndrome focusing on its clinical, biochemical, molecular, and therapeutic characteristics.

Humans , Carbohydrate Metabolism, Inborn Errors/diagnosis , Carbohydrate Metabolism, Inborn Errors/genetics , Carbohydrate Metabolism, Inborn Errors/therapy , Monosaccharide Transport Proteins/genetics , Epilepsy/diagnosis , Epilepsy/genetics , Mutation
Rev. Flum. Odontol. (Online) ; 1(60): 15-22, jan.-abr. 2023.
Article in Portuguese | LILACS, BBO | ID: biblio-1411181


A epilepsia configura-se como sendo uma patologia crónica oriunda de manifestação elétrica cerebral de caráter anormal, que ocasiona repercussões neurológicas. O tratamento da epilepsia emprega a administração medicamentosa e também pode utilizar o recurso da dieta cetogénica. Sabe-se que o recurso da utilização da dieta cetogênica para enfrentamento da epilepsia promove repercussões a nível da saúde bucal dos enfermos em tratamento. O objetivo deste artigo foi evidenciar como o emprego da dieta cetogênica na terapia utilizada para enfrentamento da epilepsia pode influenciar na saúde bucal dos indivíduos em tratamento. O tratamento medicamentoso da epilepsia emprega anticonvulsivantes e muitas vezes requer o uso de mais de um medicamento para tratamento, o que pode acarretar efeitos adversos a nível sistêmico e oral. Merecem atenção e cuidados odontológicos comumente o tratamento com fármacos por intermédio da administração da fenitoína, geralmente utilizada para tratamento da epilepsia, que pode trazer repercussões odontológicas e alterações periodontais, como a hiperplasia gengival. O conhecimento e a conscientização por parte dos cirurgiões dentistas acerca dos cuidados odontológicos que devem ser adotados para esses pacientes especiais portadores de epilepsia são de suma importância para realização de uma abordagem odontológica. Concluiu-se que as repercussões bucais oriundas da epilepsia devem ser identificadas e tratadas imediatamente, ao passo que o cirurgião dentista contata os pacientes enfermos, uma vez que caso contrário pode-se conviver com agravantes e piora no quadro odontológico apresentado, portanto deve-se primar por impedir a evolução desfavorável do estado de saúde bucal dos pacientes.

Epilepsy is a chronic pathology arising from an abnormal electrical brain manifestation, which causes neurological repercussions. The treatment of epilepsy employs drug administration and can also use the ketogenic diet. It is known that the use of the ketogenic diet to cope with epilepsy promotes repercussions in terms of the oral health of patients undergoing treatment. The objective of this article was to show how the use of the ketogenic diet in the therapy used to cope with epilepsy can influence the oral health of individuals undergoing treatment. Drug treatment of epilepsy uses anticonvulsants and often requires the use of more than one drug for treatment, which can lead to adverse systemic and oral effects. Treatment with drugs through the administration of phenytoin, generally used for the treatment of epilepsy, which can bring dental repercussions and periodontal changes, such as gingival hyperplasia, deserves attention and dental care. Knowledge and awareness on the part of dental surgeons about the dental care that should be adopted for these special patients with epilepsy are of paramount importance for carrying out a dental approach. It was concluded that the oral repercussions arising from epilepsy should be identified and treated immediately, while the dental surgeon contacts sick patients, since otherwise one can live with aggravating factors and worsening of the dental condition presented, therefore, one should excel in preventing the unfavorable evolution of the patients' oral health status.

Oral Health , Dentistry , Epilepsy/therapy , Diet, Ketogenic
Rev. int. sci. méd. (Abidj.) ; 5(2): 164-169, 2023. figures, tables
Article in French | AIM | ID: biblio-1516816


Introduction. L'épilepsie du sujet âgé de 65 ans et plus est une pathologie plus fréquente que chez l'adulte jeune. L'objectif principal de ce travail était de faire la description clinique, étiologique et thérapeutique de l'épilepsie débutante et de l'épilepsie ancienne dans cette population. Méthodes. Il s'agissait d'une étude rétrospective et descriptive. Tout patient de 65 ans et plus, hospitalisé en neurologie ou vu en consultation d'épileptologie au CHU Pontchaillou de Rennes (France), présentant une épilepsie débutante ou une épilepsie ancienne a été inclus du 01 novembre 2018 au 30 avril 2019. Résultats. Nous avons retenu 95 patients. Quatorze patients ont été inclus pour une épilepsie débutante. Les crises focales prédominaient (50%) suivies des crises d'emblée généralisées (28,57%). L'étiologie la plus fréquente était d'origine structurelle dans 57,14% des cas avec 75 % de lésions tumorales et 25 % de lésions neuro-vasculaires. Quatre-vingt et un patients ont été retenus pour une épilepsie ancienne. Les crises focales prédominaient (41,98%) suivies des crises d'emblée généralisées (35,80%). L'étiologie la plus importante était d'origine structurelle (54,78%) avec 38,10% de lésions neuro-vasculaires suivies de lésions tumorales dans 16,68% des cas. Le lé vé tiracé tam était plus utilisé chez les patients ayant une épilepsie débutante et la lamotrigine chez les patients connus épileptiques. Conclusion. L'épilepsie chez le sujet âgé est de diagnostic diffi cile en raison d'un grand polymorphisme des crises et de l'origine souvent plurifactorielle. L'étiologie neuro-vasculaire est dominante dans cette population.

Introduction. Epilepsy in subjects aged 65 and over is a more frequent pathology than in young adults. The main objective of this work was to make the clinical, etiological, and therapeutic description of early epilepsy and old epilepsy in this population. Methods. This was a retrospective and descriptive study. Any patient aged 65 and over, hospitalized in neurology or seen in an epileptology consultation at the CHU Pontchaillou in Rennes (France), presenting with early epilepsy or old epilepsy was included from November 01, 2018, to April 30, 2019. Results. We retained 95 patients. Fourteen patients were included for early epilepsy. Focal seizures predominated (50%) followed by generalized seizures (28.57%). The most common etiology was of structural origin in 57.14% of cases with 75% tumor lesions and 25% neurovascular lesions. Eighty-one patients were selected for old epilepsy. Focal seizures predominated (41.98%) followed by generalized seizures (35.80%). The most important etiology was of structural origin (54.78%) with 38.10% of neurovascular lesions followed by tumor lesions in 16.68% of cases. Levetiracetam was used more in patients with early epilepsy and lamotrigine in patients with known epilepsy. Conclusion. Epilepsy in the elderly is difficult to diagnose due to a large polymorphism of seizures and often multifactorial origin. The neurovascular etiology is dominant in this population.

Humans , Male , Female , Referral and Consultation , Epilepsy
S. Afr. med. j. (Online) ; 113(1): 42-48, 2023. figures, tables
Article in English | AIM | ID: biblio-1412828


Background. Epilepsy is often diagnosed through clinical description, but inter-observer interpretations can be diverse and misleading. Objective. To assess the utility of smartphone videos in the diagnosis of paediatric epilepsy.Methods. The literature was reviewed for evidence to support the use of smartphone videos, inclusive of advantages, ethical practice and potential disadvantages. An existing adult-based quality of video (QOV) scoring tool was adapted for use in children. A pilot study used convenience sampling of videos from 25 patients, which were reviewed to assess the viability of the adapted QOV tool against the subsequent diagnosis for the patients with videos. The referral mechanism of the videos was reviewed for the source and consent processes followed. Results. A total of 14 studies were identified. Methodologies varied; only three focused on videos of children, and QOV was formally scored in three. Studies found that smartphone videos of good quality assisted the differentiation of epilepsy from non-epileptic events, especially with accompanying history and with more experienced clinicians. The ethics and risks of circulation of smartphone videos were briefly considered in a minority of the reports. The pilot study found that the adapted QOV tool correlated with videos of moderate and high quality and subsequent diagnostic closure.Conclusions. Data relating to the role of smartphone video of events in children is lacking, especially from low- and middle-income settings. Guidelines for caregivers to acquire good-quality videos are not part of routine practice. The ethical implications of transfer of sensitive material have not been adequately addressed for this group. Prospective multicentre studies are needed to formally assess the viability of the adapted QOV tool for paediatric videos.

Humans , Male , Female , Seizures , Cell Phone , Epilepsy , Smartphone , Video Recording , Diagnosis
Chinese Journal of Medical Genetics ; (6): 344-348, 2023.
Article in Chinese | WPRIM | ID: wpr-970930


OBJECTIVE@#To explore the genetic etiology of a patient with epilepsy and provide genetic counseling.@*METHODS@#A patient who had visited the Center for Reproductive Medicine of Shandong University on November 11, 2020 was selected as the study subject, and her clinic information was collected. Candidate variant was identified through whole exome sequencing (WES), and Sanger sequencing was used for validation. Possible transcriptional changes caused by the variant was detected by reverse transcription-PCR and Sanger sequencing.@*RESULTS@#The patient was a 35-year-old female with no fever at the onset, loss of consciousness and abnormal firing in the temporal lobe, manifesting predominantly as convulsions and fainting. WES revealed that she had harbored a heterozygous c.2841+5G>A variant of the SCN9A gene, which was verified by Sanger sequencing. cDNA sequencing confirmed that 154 bases were inserted between exons 16 and 17 of the SCN9A gene, which probably produced a truncated protein and affected the normal function of the SCN9A protein. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.2841+5G>A variant was classified as likely pathogenic (PVS1_Strong+PM2_Supporting).@*CONCLUSION@#The c.2841+5G>A variant of the SCN9A gene probably underlay the epilepsy in this patient. Above finding has enriched the variant spectrum of the SCN9A gene and provided a basis for the prenatal diagnosis and preimplantation genetic testing for this patient.

Humans , Female , Pregnancy , Adult , Epilepsy/genetics , Seizures , Exons , DNA, Complementary , Genetic Counseling
Chinese Journal of Pediatrics ; (12): 1124-1128, 2023.
Article in Chinese | WPRIM | ID: wpr-1013234


Objective: To summarize the clinical characteristics of epileptic seizure associated with neurofibromatosis type 1 (NF1). Methods: From January 2017 to July 2023 at Children's Hospital Capital Institute of Pediatrics, medical records of patients with both NF1 and epileptic seizure were reviewed in this case series study. The clinical characteristics, treatment and prognosis were analyzed retrospectively. Results: A total of 15 patients(12 boys and 3 girls) were collected. Café-au-lait macules were observed in all 15 patients. There were 6 patients with neurodevelopmental disorders and the main manifestations were intellectual disability or developmental delay. The age at the first epileptic seizure was 2.5 (1.2, 5.5) years. There were various seizure types, including generalized tonic-clonic seizures in 8 patients, focal motor seizures in 6 patients, epileptic spasm in 4 patients, tonic seizures in 1 patient, absence in 1 patient, generalized myoclonic seizure in 1 patient and focal to bilateral tonic-clonic seizure in 1 patient. Among 14 patients whose brain magnetic resonance imaging results were available, there were abnormal signals in corpus callosum, basal ganglia, thalamus or cerebellum in 6 patients, dilated ventricles of different degrees in 3 patients, blurred gray and white matter boundary in 2 patients, agenesis of corpus callosum in 1 patient and no obvious abnormalities in the other patients. Among 13 epilepsy patients, 8 were seizure-free with 1 or 2 antiseizure medications(ASM), 1 with drug resistant epilepsy was seizure-free after left temporal lobectomy, and the other 4 patients who have received 2 to 9 ASM had persistent seizures. One patient with complex febrile convulsion achieved seizure freedom after oral administration of diazepam on demand. One patient had only 1 unprovoked epileptic seizure and did not have another seizure without taking any ASM. Conclusions: The first epileptic seizure in NF1 patients usually occurs in infancy and early childhood, with the main seizure type of generalized tonic-clonic seizure and focal motor seizure. Some patients have intellectual disability or developmental delay. Most epilepsy patients achieve seizure freedom with ASM.

Male , Female , Humans , Child, Preschool , Child , Neurofibromatosis 1/diagnosis , Retrospective Studies , Intellectual Disability , Electroencephalography , Epilepsy/etiology , Seizures/etiology
Neuroscience Bulletin ; (6): 1605-1622, 2023.
Article in English | WPRIM | ID: wpr-1010649


Epilepsy is a common, chronic neurological disorder that has been associated with impaired neurodevelopment and immunity. The chemokine receptor CXCR5 is involved in seizures via an unknown mechanism. Here, we first determined the expression pattern and distribution of the CXCR5 gene in the mouse brain during different stages of development and the brain tissue of patients with epilepsy. Subsequently, we found that the knockdown of CXCR5 increased the susceptibility of mice to pentylenetetrazol- and kainic acid-induced seizures, whereas CXCR5 overexpression had the opposite effect. CXCR5 knockdown in mouse embryos via viral vector electrotransfer negatively influenced the motility and multipolar-to-bipolar transition of migratory neurons. Using a human-derived induced an in vitro multipotential stem cell neurodevelopmental model, we determined that CXCR5 regulates neuronal migration and polarization by stabilizing the actin cytoskeleton during various stages of neurodevelopment. Electrophysiological experiments demonstrated that the knockdown of CXCR5 induced neuronal hyperexcitability, resulting in an increased number of seizures. Finally, our results suggested that CXCR5 deficiency triggers seizure-related electrical activity through a previously unknown mechanism, namely, the disruption of neuronal polarity.

Animals , Humans , Mice , Actin Cytoskeleton/metabolism , Actins/metabolism , Epilepsy/metabolism , Neurons/metabolism , Receptors, CXCR5/metabolism , Seizures/metabolism
Chinese Medical Journal ; (24): 305-312, 2023.
Article in English | WPRIM | ID: wpr-970044


BACKGROUND@#Epilepsy accounts for a significant portion of the global disease burden. However, little is known about the disease burden of epilepsy in China and its provinces.@*METHODS@#We assessed the burden of epilepsy in China and its provinces, municipalities, and autonomous regions from 1990 to 2019. Burden was measured as incidence, prevalence, deaths, years lived with disability, years of life lost, and disability-adjusted life years (DALYs), by age, sex, year, and province. We used the Socio-Demographic Index (SDI) to determine the association between the provincial development level and age-standardized DALY rates of epilepsy from 1990 to 2019.@*RESULTS@#In 2019, epilepsy caused 1367.51 thousand (95% uncertainty interval [UI]: 979.92-1837.61 thousand) DALYs, and the age-standardized DALY rate was 99.77 (95% UI: 71.33-133.52)/100,000. The age-standardized incidence and prevalence rates for epilepsy in China were 24.65/100,000 and 219.69/100,000, increased by 45.00% (95% UI: 8.03-98.74%) and 35.72% (95% UI: 0.47-86.19%) compared with that in 1990, respectively. From 1990 to 2019, the proportion of DALY caused by epilepsy in the age group under 25 years steadily decreased. The proportion of DALYs caused by epilepsy in people aged 50 years and over increased from 9.45% and 10.22% in 1990 to 29.01% and 32.72% for male and female individuals in 2019, respectively. The highest age-standardized mortality rates were seen in Tibet (4.26 [95% UI: 1.43-5.66]/100,000), Qinghai (1.80 [95% UI: 1.15-2.36]/100,000), and Yunnan (1.30 [95% UI: 0.88-1.62]/100,000), and the lowest mortality rates were in Guangdong (0.48 [95% UI: 0.39-0.64]/100,000), Zhejiang (0.56 [95% UI: 0.44-0.70]/100,000), and Shanghai (0.57 [95% UI: 0.41-0.73]/100,000). The age-standardized DALY rates across the country and in provinces, municipalities, and autonomous regions generally decreased as their SDI increased.@*CONCLUSIONS@#The disease burden of epilepsy is still heavy in China, especially in the western provinces. The incidence and prevalence of epilepsy increased between 1990 and 2019, and the burden of epilepsy in the elderly increases gradually. This study provides evidence on epilepsy prevention and care of different regions in China.

Aged , Humans , Male , Female , Middle Aged , Adult , Global Burden of Disease , China/epidemiology , Quality-Adjusted Life Years , Cost of Illness , Epilepsy/epidemiology , Prevalence
Chinese Journal of Medical Genetics ; (6): 887-891, 2023.
Article in Chinese | WPRIM | ID: wpr-981842


The GATOR1 complex is located at the upstream of the mTOR signal pathway and can regulate the function of mTORC1. Genetic variants of the GATOR1 complex are closely associated with epilepsy, developmental delay, cerebral cortical malformation and tumor. This article has reviewed the research progress in diseases associated with genetic variants of the GATOR1 complex, with the aim to provide a reference for the diagnosis and treatment of such patients.

Humans , GTPase-Activating Proteins/metabolism , Signal Transduction/genetics , Mechanistic Target of Rapamycin Complex 1/metabolism , Epilepsy/genetics , Neoplasms
Chinese Journal of Medical Genetics ; (6): 828-832, 2023.
Article in Chinese | WPRIM | ID: wpr-981830


OBJECTIVE@#To explore the clinical and genetic characteristics of two children with Williams-Beuren syndrome (WBS).@*METHODS@#Two children who had presented at the Department of Pediatrics, General Hospital of Ningxia Medical University respectively on January 26 and March 18, 2021 were selected as the study subjects. Clinical data and results of genetic testing of the two patients were analyzed.@*RESULTS@#Both children had featured developmental delay, characteristic facies and cardiovascular malformation. Child 1 also had subclinical hypothyroidism, whilst child 2 had occurrence of epilepsy. Genetic testing revealed that child 1 has harbored a 1.54 Mb deletion in the 7q11.23 region, whilst child 2 has a 1.53 Mb deletion in the same region, in addition with a c.158G>A variant of the ATP1A1 gene and a c.12181A>G variant of the KMT2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.158G>A and c.12181A>G variants were rated as variants of unknown significance (PM1+PM2_Supporting+PP2+PP3;PM2_Supporting).@*CONCLUSION@#Both children had characteristic features of WBS, for which deletions of the 7q11.23 region may be accountable. For children manifesting developmental delay, facial dysmorphism and cardiovascular malformations, the diagnosis of WBS should be suspected, and genetic testing should be recommended to confirm the diagnosis.

Child , Humans , Williams Syndrome/diagnosis , Genetic Testing , Facies , Epilepsy/genetics , Chromosomes, Human, Pair 7/genetics , Chromosome Deletion