Epilepsias generalizadas idiopáticas / Idiopathic generalized epilepsies

Resumen Las epilepsias generalizadas idiopáticas (EGI) son un grupo de epilepsias generalizadas edad de pendientes, subgrupo de las Epilepsias genéticas generalizadas(EGG), con hallazgos electro-clínicos característicos y herencia poligénica. Las EGI inclu yen las cuatro epilepsias generalizadas clásicas más comunes de las EGG: la epilepsia de ausencias de la infancia (EAI), epilepsia de ausencias juveniles (EAJ), epilepsia mioclónica juvenil (EMJ) y la epilepsia con crisis tónico clónicas generalizadas. Clínicamente caracterizadas por la presencia de una o una com binación de crisis de ausencias, mioclonías, tónica-clónicas omioclónica-tónica-clónicas con patrón elec troencefalográfico de punta onda lenta de 2.5 a 6cps y activación con la hiperventilación y fotoestimula ción, Sobresalen de las EGG por compartir atributos particulares como el buen pronóstico con control frecuente de las crisis, la no evolución a encefalopa tías epilépticas, frecuente superposición clínica entre las tres primeras, pudiendo evolucionar entre ellas; la probabilidad y edad de remisión varía en cada una.Más del 80% se controlan adecuadamente con medicamentos anticrisis de amplio espectro como el ácido valproico y pueden empeorar con bloqueadores de sodio o gabaérgicos. Si bien los pacientes son previamente sanos con neurodesarrollo normal, frecuentemente se asocian con trastornos del ánimo, déficit de atención e hiperactividad (TDAH) y problemas del aprendizaje pero no presentan déficit cognitivo. El reconocimiento de este grupo de EGI es importan te para el uso adecuado del recurso, evitando estudios innecesarios, adecuada orientación del pronóstico y un tratamiento óptimo.

Abstract Idiopathic generalized epilepsies (IGE) is a group of epilepsies age-dependent, a subgroup of EGG genetic generalized epilepsies, with electro-clinical features and polygenic inheritance. Four syndromes comprising the IGEs: childhood absence epilepsy (CAD), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures epilepsy. Clinically characterized by the presence of one or a combination of absence seizures, myoclonus, tonic-clonic, or myoclonic-tonic-clonic with common electroencephalographic pat terns of 2.5-5.5 Hz generalized spike-wave and activated by hyperventilation or photic stimulation. They generally have a good prognosis for seizure control, not evolve to an epileptic encephalopathy. Frequent clinical overlap between the first three, being able to evolve between them; the probability and age of remission varies in each one. About 80% responding to broad-spectrum anti-seizure drugs such as valproic acid, may worsen with sodium or GABAergic blockers. Development is typically normal; however, they are frequently associated with mood disorders, attention-deficit/hyperactivity disorder (ADHD), and learning dis abilities, but do not have cognitive deficits. The recognition of this group of EGI is important for the adequate use of the resources, avoiding unnecessary studies, adequate orientation of the prognosis and an optimal treatment.

Research progress of non-ion channel genes related to juvenile myoclonic epilepsy / 中国神经精神疾病杂志

Juvenile myoclonic epilepsy(JME)is a common subtype of idiopathic generalized epilepsy(IGE).Genetic factors play an important role in JME.Multiple genes and chromosomal loci have been found to be associated with the onset of JME.According to the different mechanisms involved in gene mutations causing JME,JME related genes can be divided into ion channel genes and non-ion channel genes.The mechanism of action of ion channel genes has gradually been clarified which only accounts for a few cases.The mechanism of action of JME related non-ion channel genes is not yet clear.This article will review the research progress of JME related non-ion channel genes from three aspects:neurotransmitter related genes(CHRNA4,GRM4,SLC6A4),nervous system development related genes(TOP3B,CILK1,BRD2,EFHC1)and other related genes(TAP-1,CX36).

Research progress on the related treatment of progressive myoclonic epilepsy / 中国临床药理学与治疗学

Progressive myoclonic epilepsy (PME) is a rare epileptic syndrome closely associated with genetic factors. The disease is primarily inherited in an autosomal recessive manner, although there are rare cases that demonstrate autosomal dominant or mitochondrial inheritance. Common clinical features include myoclonus, multiple seizure types, and progressive decline in neurological and cognitive function. PME typically manifests in late childhood or adolescence but can occur at any age. It accounts for approximately 1% of epileptic syndromes among children and adolescents worldwide. In recent years, in addition to antiseizure medications, numerous non-pharmacological treatments have emerged, including dietary therapy, neuromodulatory therapy, immunomodulatory therapy, enzyme replacement therapy, gene therapy, etc. This article aims to review the research progress in the treatment of PME.

Progress in the treatment of progressive myoclonic epilepsies / 中华神经科杂志

Progressive myoclonic epilepsies (PMEs) are a group of rare genetic diseases. Common clinical manifestations include action myoclonus often with generalized tonic-clonic seizures, cognitive impairment and other focal neurological deficits. PMEs generally respond poorly to antiseizure drugs and have a poor overall prognosis. Disorders that can cause PMEs include Unverricht-Lundborg disease, Lafora disease, neuronal ceroid lipofuscinosis, myoclonic epilepsy with fragmented red fiber syndrome, sialic acidosis, dentate erythronucleus pallidus Lewy body atrophy, etc. The current treatments for PMEs include drug therapy, neuromodulatory therapy, dietary therapy, anti-inflammatory and immunomodulatory therapy, enzyme replacement therapy and gene therapy. This article reviews the currently known treatments for PMEs, and provides ideas for better research and exploration of treatments for PMEs.

Opinions on the nomenclature of familial cortical myoclonic tremor with epilepsy / 中华神经科杂志

Familial cortical myoclonic tremor with epilepsy (FCMTE) is a rare neurological disorder. There were more than 10 different terms of disease name in domestic and international published articles by searching FCMTE from PubMed and Wanfang database (from 1990 to 2022), which indicated the different understanding of the disease. It is necessary to discuss the correct and consentaneous name of the disease to facilitate the professional investigation in the future. The name evolution of FCMTE and the author′s views are described in this article.

Mutación en el gen SCN9Aasociado con el síndrome de Dravet: presentación de un caso pediátrico / Mutation in the SCN9A Gene Associated with Dravet Syndrome: A Pediatric Case Report / Mutação no gene SCN9A associada à síndrome de Dravet: relato de um caso pediátrico

Introducción:el síndrome de Dravet, también conocido como epilepsia mioclónica grave de la infancia, corresponde a una encefalopatía epiléptica resistente a fármacos que inicia generalmente en el primer año de vida. Se caracteriza por crisis epilépticas que suelen tener múltiples desencadenantes; el más asociado es la presencia de episodios febriles previos. Se considera una enfermedad rara, debido a su baja incidencia y prevalencia. Presentación del caso: niño de 10 años de edad con un cuadro de epilepsia de origen estructural, asociada con un retraso en el neurodesarrollo y anomalías craneofaciales meno-res, con antecedente de cardiopatía congénita no corregida, colpocefalia y agenesia del cuerpo calloso. Debido a la persistencia de las crisis convulsivas y su consiguiente resistencia farmacológica, se le rea-lizó un exoma genético que evidenció una mutación del gen SCN9. Discusión: el síndrome de Dravet debe ser sospechado en todo paciente menor de un año que tenga crisis convulsivas a repetición asociadas con episodios febriles cuantificados. Aproximadamente, entre el 70 % y el 85 % de los pacientes con el diagnóstico de síndrome de Dravet presenta una mutación en el gen SCN1A, por lo que mutaciones en otros genes que codifican para canales de sodio, ubicados en el mismo cromosoma, como el SCN9A, podrían contribuir de forma multifactorial a dicha entidad

Introduction: Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a drug resistant epileptic encephalopathy that usually begins in the first year of life. It is characterized by the presence of epileptic seizures that usually have multiple triggers; the most currently associated is the presence of previous febrile episodes. It is considered as a rare disease due to its low incidence and prevalence. Case presentation: We reported the case of a ten-year-old boy with structural epilepsy associated with a neuro-developmental delay and minor craniofacial anomalies. He had a history of uncorrected congenital heart disease, colpocephaly, and agenesis of the corpus callosum. Due to the persistence of seizures secondary to drug resistance, it was decided to perform a genetic exome that evidenced a mutation of the SCN9A gene. Conclusions: Dravet syndrome should be suspected in all patients under one year of age who have recu-rrent seizures associated with fever that does not respond to medication and modifies its presentation. Approximately 70%−85% of the patients diagnosed with Dravet syndrome have a mutation in the SCN1A gene; therefore, mutations in other genes that encode sodium channels located on the same chromosome, such as SCN9A, could contribute in a multifactorial way.

Introdução: a síndrome de Dravet, também conhecida como epilepsia mioclônica grave da infância, corresponde a uma encefalopatia epiléptica resistente a medicamentos que geralmente se inicia no primeiro ano de vida. É caracterizada pela presença de crises epilépticas que costumam ter múltiplos detonantes, sendo que o mais associado atualmente é a presença de episódios febris prévios. É conside-rada uma doença rara devido à sua baixa incidência e prevalência. Apresentação do caso: é apresentado o caso de um menino de 10 anos de idade com quadro de epilepsia de origem estrutural, associada a atraso no desenvolvimento neurológico e pequenas anomalias craniofaciais; com histórico de cardio-patia congênita não corrigida, colpocefalia e agenesia do corpo caloso. Devido à persistência das crises epilépticas e consequente resistência farmacológica, optou-se pela realização de um exoma genético que apresenta uma mutação do gene SCN9. Discussão: a síndrome de Dravet deve ser suspeitada em todos os pacientes com menos de um ano de idade que apresentam convulsões repetidas associadas a episódios febris quantificados. Aproximadamente 70 a 85% dos pacientes com diagnóstico de síndrome de Dravet apresentam mutação no gene SCN1A, portanto mutações em outros genes que codificam canais de sódio, localizados no mesmo cromossomo, como o SCN9A, poderiam contribuir de forma multifatorial para essa entidade

Vagus Nerve Stimulation in the Treatment of Dravet Syndrome / 罕见病研究

Dravet syndrome is a epileptic syndrome characterized by drug-resistant epilepsy occuring at childhood. It is often accompanied by status epilepticus and cognitive and language impairment appearing gradually as the disease progresses. The effect of antiepileptic drugs and resection epilepsy surgery on Dravet syndrome is poor although neuromodulation surgery, especially vagus nerve stimulation, is an effective and feasible treatment for Dravet syndrome. In this article we reported a case of Dravet syndrome treated with vagus nerve stimulation, relevant literature was reviewed and summarized at the same time. A total of 141 cases of Dravet treated by vagus nerve stimulation were collected, and the overall effective rate was 53.9%.

A case of action myoclonus-renal failure syndrome caused by SCARB2 gene mutation / 中华神经科杂志

The article reported the clinical, electrophysiological, renal pathology and gene mutation characteristics of a patient with action myoclonus-renal failure syndrome (AMRF). The patient was a young male who developed epilepsy at the age of 16 and gradually developed tremor, ataxia, and myoclonic seizures. Brain magnetic resonance imaging was normal. The electrophysiological manifestations of the nerve were symmetrical multiple sensory and motor nerve conduction velocity deceleration, especially the easily embedded site of the nerve. Renal pathology showed focal segmental glomerulosclerosis. A new complex heterozygous mutation of SCARB2 gene c.534_537delinsCT (chr4:7710074) and c.358G>T (chr4:7710217) was detected in the patient and verified by his family. The 2 heterozygous mutations were respectively from the patient′s parents. AMRF is a rare type of epilepsy in adolescents. The early manifestations were myoclonus or abnormal renal function, with great clinical heterogeneity and easy to be misdiagnosed and missed diagnosis. The final diagnosis depends on genetic testing.

Lipofuscinosis ceroidea neuronal 6 (enfermedad Kufs tipo A): Reporte de caso en Colombia / Neuronal ceroid lipofuscinosis 6 (Kufs disease Type A): Case report from Colombia

RESUMEN INTRODUCCIÓN: Las lipofuscinosis ceroideas neuronales (CLN) son un grupo de enfermedades neurodegenerativas de inicio generalmente en la infancia, caracterizadas por acumulación intracelular de material de almacenamiento autofluorescente. En la última década se han identificado 14 formas de CLN con mutaciones en 13 genes (CLN1-CLN14), en la CLN9 no se ha identificado aún el gen. Los pacientes con mutaciones en el gen CLN6 localizado en el cromosoma 15q21-23 presentan tres tipos de variantes clínicas: CLN6 infantil tardía, con presentación entre 18 meses a 8 años, las variantes Kufs tipo A y Kufs tipo B de inicio en adolescentes y adultos. REPORTE DE CASO: Se presenta el caso de un paciente con epilepsia generalizada de inicio en la edad adulta, que ingresa a valoración en primera ocasión, con resonancia magnética cerebral con atrofia cortical leve; la enfermedad se inició a los 14 años con déficit cognitivo lentamente progresivo, sin compromiso visual; con posterior identificación genética de una variante patogénica en el gen CLN6, con un conjunto de la variante clínica Kufs tipo A de lipofuscinosis ceroidea neuronal 6 (CLN6). DISCUSIÓN: Este es el primer reporte de CLN6 con variante clínica Kufs tipo A en Colombia. Con el advenimiento de técnicas genéticas se pueden hacer diagnósticos específicos de CLN6, a partir de la clínica y sospecha diagnóstica; utilizando métodos no invasivos.

ABSTRACT INTRODUCTION: Neuronal ceroid lipofuscinosis (CLN) is a group of neurodegenerative diseases generally with onset in childhood, characterized by intracellular accumulation of autofluorescent storage material. In the last decade, 14 forms of CLN have been identified with mutations in 13 genes (CLN1-CLN14), in CLN9 the gene has not yet been identified. Patients with mutations in the CLN6 gene located on chromosome 15q21-23 present three types of clinical variants: late childhood CLN6, presenting between 18 months to 8 years, the Kufs type A and Kufs type B variants of onset in adolescents and adults. CASE REPORT: We present the case of a male patient with generalized epilepsy of onset in adulthood, who was admitted for evaluation the first time, with brain magnetic resonance imaging with mild cortical atrophy; he started at age 14 with slowly progressive cognitive deficit, without visual compromise; with subsequent genetic identification of a pathogenic variant in the CLN6 gene, jointly presenting the clinical variant Kufs type A of neuronal ceroid lipofuscinosis 6 (CLN6). DISCUSSION: This is the first report of CLN6 with Kufs type A clinical variant in Colombia. With the advent of genetic techniques, specific diagnoses of CLN6 can be made, based on the clinical and suspected diagnoses; using non-invasive methods.

La epilepsia mioclónica juvenil y las disfunciones neurocognitivas y ejecutivas asociadas / Juvenile myoclonic epilepsy and associated neurocognitive and executive dysfunctions

Resumen La epilepsia mioclónica juvenil (EMJ) es un trastorno benigno con buena respuesta a la medicación antiepiléptica. Evaluaciones neuropsicológicas revelaron trastornos cognitivos leves. El objetivo de este estudio es determinar el desempeño cognitivo y síntomas anímicos de la EMJ comparados con controles normales. Se evaluaron en forma prospectiva 30 pacientes con EMJ y 29 controles pareados por edad, género, y escolaridad. Se analizaron las características clínicas de la EMJ. Se administró una batería cognitiva completa, un cuestionario auto-administrado de dificultades ejecutivas (DEX), un inventario de depresión validado para epilepsia NDDI-E, escala de depresión de Beck (BDI), escala de ansiedad (GAD-7) y escala de riesgo de suicidio (MINI). Sin diferencias significativas en edad y escolaridad ent re EMJ y controles. Tiempo medio de evolución de la enfermedad, 18 años. El 53% presentó tres tipos de crisis, mioclonías, ausencias y convulsiones tónico-clónicas generalizadas. Hubo diferencias significativas con mayores fallas en atención, funciones ejecutivas, un puntaje significativamente mayor en el DEX en pacientes con EMJ. Se encontró un mayor puntaje en el NDDI-E, BDI y GAD-7 en EMJ. No se hallaron diferencias en el riesgo de suicidio respecto a controles. El estudio confirma que la EMJ presenta mayores fallas en el funcionamiento atencional y las habilidades ejecutivas relacionadas con la flexibilidad e inhibición, siendo en la mayoría de los casos los pacientes conscientes de sus dificultades. Conocer estas dificultades permitirá un mejor abordaje terapéutico, y mejorar síntomas muchas veces desestimados.

Abstract Juvenile myoclonic epilepsy (JME) is a benign disorder with a good response to antiepileptic drugs. Neurop sychological evaluations revealed mild cognitive deficits. The objective of this study is to determine the cognitive profile and mood symptoms in JME compared to normal controls. 30 patients with JME and 29 controls matched for age, gender, and education level were prospectively evaluated. The clinical characteristics were analysed. They were given a complete cognitive battery, a self-administered questionnaire of executive difficulties (DEX), the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), Beck Depression Inventory (BDI), Generalized Anxiety Disorder Scale (GAD-7) and suicide risk scale (MINI). No significant differences in age and education were observed between JME and controls. Average time of evolution of the disease 18 years, 53% have three types of seizures: myoclonic, absence seizures and tonic-clonic seizures. Significant differences were found with greater failures in attention, executive function, a significantly higher score values in DEX in JME subjects. A higher score was found in the NDDI-E; BDI and GAD-7. No differences were found in the risk of suicide with respect to controls. The study confirms that JME presents greater failures in attentional functioning and executive skills related to flexibility and inhibition, with patients being aware of their difficulties in most cases. Knowing these difficulties would allow a better therapeutic approach to improve symptoms usually dismissed.

Clinical manifestations of 7 pedigrees with familial cortical myoclonic tremor with epilepsy / 中华神经医学杂志

Objective:To explore the clinical manifestations of familial cortical myoclonic tremor with epilepsy (FCMTE).Methods:A retrospective analysis was performed. The clinical data of 7 pedigrees with FCMTE (10 patients), admitted to our hospital from May 2010 to November 2016, were collected. Medical history of family members were investigated.Results:A total of 113 family members from 7 pedigrees, including 61 affected individuals (30 males and 31 females) were recorded; all were consistent with autosomal dominant inheritance. In these 10 patients, the age of onset ranged from 13 to 50; there were 5 females and 5 males; tremor was found as first symptom, accompanied by epileptic seizures; the main trigger factors included tiredness, emotional excitement or lack of sleep; all patients presented with generalized tonic-clonic seizure, including 2 with partial seizures accompanied by perceptual disturbance; migraine was noted in 4 patients; cognitive decline was noted in 3 patients, stiffness in 1 patient, paroxysmal weakness in 1 patient, and blurred vision at dark in 1 patient, and dizziness in 1 patient. EEG showed epileptiform discharges in 8 patients. Electromyography was completed in 3 patients, giant somatosensory evoked potentials and long-latency C-reflex were observed when peripheral nerves were stimulated. Intronic pentanucleotide TTTTA and TTTCA repeat insertion in the SAMD12 gene was identified in 3 patients by genetic testing. Antiepileptic drugs were given to 8 patients and their condition was effectively controlled. Conclusions:FCMTE is autosomal dominant disease characterized by myoclonic tremor and epilepsy, usually occurs in adults, and tremor often occurs earlier than epilepsy. Epilepsy is related to emotional excitement and sleep deprivation. Neuroelectrophysiology shows that tremor comes from cerebral cortex.

Research progress on transient receptor potential melastatin 2 channel in nervous system diseases / 浙江大学学报·医学版

Transient receptor potential M2 (TRPM2) ion channel is a non-selective cationic channel that can permeate calcium ions, and plays an important role in neuroinflammation, ischemic reperfusion brain injury, neurodegenerative disease, neuropathic pain, epilepsy and other neurological diseases. In ischemic reperfusion brain injury, TRPM2 mediates neuronal death by modulating the different subunits of glutamate N-methyl-D-aspartic acid receptor in response to calcium/zinc signal. In Alzheimer's disease, TRPM2 is activated by reactive oxygen species generated by β-amyloid peptide to form a malignant positive feedback loop that induces neuronal death and is involved in the pathological process of glial cells by promoting inflammatory response and oxidative stress. In epilepsy, the TRPM2-knockout alleviates epilepsy induced neuronal degeneration by inhibiting autophagy and apoptosis related proteins. The roles of TRPM2 channel in the pathogenesis of various central nervous system diseases and its potential drug development and clinical application prospects are summarized in this review.

Clinical and electrophysiological study of familial cortical myoclonic tremor with epilepsy with fixation-off sensitivity / 中华神经科杂志

Objective:To discuss the clinical and electrophysiological characteristics of familial cortical myoclonic tremor with epilepsy (FCMTE) with fixation-off sensitivity (FOS).Methods:The clinical and electrophysiological characteristics of four patients diagnosed as FCMTE with FOS in the Electroencephalography (EEG) Monitoring Center of Xijing Hospital from May 2016 to December 2017 were studied and followed up.Results:The four patients were all female. The age was ranged from 29 to 67 years. The course was from six to 30 years, and the follow-up time was at least two years. The tremors and jerks occurred to the four patients frequently when the eyes were closed, which prevented their falling a sleep, and three of them had generalized tonic-clonic seizure occasionally. The FOS was monitored in the all four patients, and the photosensitivity occured to the three of them.Conclusions:The fixation-off sensitive trail during EEG monitoring is helpful to find the FCMTE with FOS. It is necessary to determine the potential clinical significance of FOS and photosensitivity coexisting in patients with FCMTE.

Subacute sclerosing panencephalitis: case based review

Subacute sclerosing panencephalitis (SSPE) is a chronic debilitating condition that occurs in children affected with measles. SSPE is broadly distinguished as typical SSPE, the more rampant form, occurring over a period of years following primary measles infection, while the atypical has a more rapidly progressive course over weeks to months. SSPE can present with cognitive, epileptic, autonomic, pyramidal and ophthalmologic manifestations with scholastic decline being the primary feature. The management of SSPE focuses on improvement of quality of life and prolongation of survival which can be achieved with the use of supportive care modalities and immunomodulators respectively. This is a comprehensive review which discusses several parameters of SSPE such as epidemiology, pathophysiology, clinical presentations, and detailed management protocol for this condition. As part of this review, we also discuss a case of rapidly progressive, fulminant and atypical SSPE in a five-year-old male presenting clinically with myoclonic jerks of lower extremities.

Facomatosis pigmentovascular cesioflammea asociada a epilepsia focal mioclónica: Primer caso reportado en el Perú / Phakomatosis pigmentovascularis cesioflammea associated with focal myoclonic seizures: First case report in Peru

Resumen La facomatosis pigmentovascular es un síndrome congénito muy poco frecuente, caracterizado por la presentación simultánea de una malformación vascular capilar y una lesión cutánea pigmentaria, con o sin compromiso extracutáneo. Se presenta el caso de una adolescente con epilepsia que cursa con crisis mioclónicas focales no controladas por un tratamiento farmacológico irregular, y que muestra además lesiones cutáneas compatibles con nevus flammeus y melanosis dérmica, ocular y palatina, presentes desde el nacimiento. Se trata del primer reporte en el país, de un síndrome neurocutáneo poco frecuente y de su asociación clínica con epilepsia, resaltándose además la importancia de una evaluación integral de esta entidad.

Summary Phacomatosis pigmentovascularis is a rare congenital syndrome, characterized by the simultaneous presentation of a capillary vascular malformation and a cutaneous pigmentary lesion, without or with extracutaneous involvement. The case of an adolescent with epilepsy characterized by focal myoclonic seizures uncontrolled by an irregular pharmacological treatment, with skin lesions compatible with nevus flammeus and dermal, ocular and palatal melanosis since birth, is presented. This is the first report in the country of an infrequent neurocutaneous syndrome and its clinical association with epilepsy, highlighting besides the importance of a comprehensive evaluation of this entity.

A study of clinical profile of intractable epilepsy in children

Background: This study was undertaken to find out the prevalence and clinical features of intractable epilepsy (IE) in a tertiary referral center.Methods: Study was conducted in a tertiary care hospital on 60 children with intractable epilepsy. Cases includes' intractable epilepsy is when seizures continue to occur despite maximally tolerated doses of more than two antiepileptics, occurrence of an average of one seizure per month for 18 months with no more than a 3 month seizure free period during these 18 months. Controls: epileptic children who had good control of seizures for the previous 18 months.Results: The prevalence of intractable seizures was 10% with maximum number of children 25 (41.6%) belonged to the 5-12 years. 15 (50%) children had daily seizures. Myoclonic seizures proved to be an important predictor of intractability. 4 children among the cases had history of family seizures, 6 children in cases had history febrile seizure, whereas, 6 children among the controls had history of family seizures, 8 children in controls had history febrile seizure.' 23.3% of children presented with Status epilepticus in the cases and 16.6% of the children in the controls. Remote symptomatic etiology 12(40%) is the commonest cause of seizure. 13 (43.3%) children in cases and 3 (10%) children among the controls had a history suggestive of birth asphyxia. EEG was abnormal in 17 (56.6%) cases when compared to 11 (36.6%) children in the controls. CT scan was abnormal in 14 (46.6%) cases and 10 (33.3%) controls. MRI was abnormal in 16 (53.3%) children of the cases and 8 (26.6%) children of the controls.Conclusions: The commonest cause of intractable epilepsy was perinatal asphyxia. Perinatal asphyxia can be prevented by good nutrition during pregnancy, regular antenatal check ups with detection of high risk pregnancy, promoting hospital deliveries and prompt resuscitation of newborn when required.

Epilepsia refractaria con convulsiones febriles plus en niños con mutaciones de la subunidad alfa de canales de sodio (SCN1A): un reporte de caso / Refractory epilepsy with febrile seizures in a child with sodium channel alpha subunit mutation (SCN1A): A case report

RESUMEN Se presenta caso de una niña de 10 años con cuadro de epilepsia mioclónica juvenil severa en la infancia, que a los 6 meses de edad debutó con crisis tónico-clónicas generalizadas (TCG) luego de la administración de una dosis de vacuna DPT, con posteriores crisis TCG, mioclónicas y múltiples episodios de estado epiléptico refractarios a fármacos antiepilépticos (FAE) de primera y segunda línea durante los primeros 5 años. Las crisis se asociaron a retraso global en el desarrollo luego del primer episodio. Durante la evolución se realizaron estudios que incluyen resonancia magnética cerebral que fue normal y tomografía por emisión de positrones (PET-CT) que evidenció alteraciones en el metabolismo en región temporal izquierda, además de estudios para inmunodeficiencias y trombofilias sin alteraciones. Los electroencefalogramas iniciales fueron normales, pero video electroencefalograma de 12 horas mostró actividad irritativa en la región central con diseminación bilateral. Los estudios genéticos identificaron una mutación en el marco de lectura de tipo "frameshift" del gen SCN1A mediante secuenciación de la región codificante. Luego de los primeros años de vida, la paciente presenta, atípicamente, remisión progresiva de las crisis con posterior desmonte de FAE y mejoría del neuro-desarrollo en el proceso interdisciplinario de rehabilitación.

SUMMARY We report the case of a 10-year-old female with a history of severe myoclonic epilepsy of infancy who presents with generalized tonic-clonic (GTC) seizures at 6 months of age after administration of a DPT vaccine, who then begins to present frequent and severe GTC seizures, myoclonic seizures and multiple refractory status epilepticus poorly controlled with first and second line anti-epileptic drugs (AEDs). This was accompanied by development delay. Studies performed on the patient included brain MRI which was normal, immunodeficiency and trombophilic studies which were normal and electroencephalographs: studies (EEG) that were at first mostly normal. The most significant findings were seen during a 12-hour video-EEG which reported epileptogenic activity in central region with bilateral dissemination and a PET-CT that showed metabolism alterations in the left temporal region. Due to this presentation a channelopathy was suspected and a coding region sequentiation study was performed which identified a frameshift mutation of the SCN1A gene confirming the diagnosis. Atipically, after 5 years the patient begins to present a favorable evolution with significant seizure remission even allowing the progressive weaning of AEDs and a remarkable stalemate of developmental delay after interdisciplinary rehabilitation process was started.

Clinical and electroencephalography characteristics analysis of myoclonic absences epilepsy / 中风与神经疾病杂志

@#Objective　To investigate the clinical manifestation,electroencephalography characteristics and prognosis of myoclonic absence epilepsy (MAE).Methods　Data from 14 patients diagnosed as MAE in the First Affiliated Hospital of Harbin Medical University from 2013 to 2019 were collected and analyzed.Results　Among the 14 cases,8 were male and 6 were female.Of all the 14 cases,myoclonic absences (MA) was the sole or main seizure symptoms,an abrupt onset and termination,a high frequency at least several times to nearly 100 times per day.They can be elicited by hyperventilation and intermittent light stimulation.The ictal EEG shows bilateral,synchronous and symmetrical spike and wave discharges repeated at 3 Hz in strict relation with myoclonias recorded on EMG.The effective drug was valproate,or combined with other antiepileptic drugs.The ages at follow up ranged from 5 years to 15 years.Seizures were controlled for 4 months to 3 years in 8 cases.Conclusion　MAE is a rare type of children with epilepsy syndrome characterized by MA.The diagnosis of MAE depends on the clinical symptoms and V-EEG findings.Early and exact diagnosis contributes to the prognosis of MAE.

Linkage Analysis of Familial Cortical Myoclonic Tremor with Epilepsy to 2p11.1-q12.2 and 3q26.32-3q28 in a family / 中风与神经疾病杂志

@#Objective　We aimed to establish the pathogenic gene loci on 2p11.1-q12.2 and 3q26.32-3q28 in this Familial cortical myoclonic tremor with epilepsy（FCMTE） pedigree. Methods　After obtaining informed consent，peripheral blood samples were obtained from 7 FCMTE patients and 13 control individuals，we amplified polymerase chain reaction （PCR）. Then STRs on chromosomal segments 2p11.1-q12.2 and 3q26.32-3q28 were chosen at genetic distances appropriate for conducting linkage analysis. Results　Negative signal were all obtained for 2p11.1-q12.2 and 3q26.32-3q28 （LOD scores Less than -2 for the STRs，respectively；θ=0.0），excluding involvement of these regions in the FCMTE pedigree analyzed. Conclusion　STR linkage analysis of 2p11.1-q12.2 and 3q26.32-3q28 didn’t support linkage to these regions，indicating that the pathogenic gene in the pedigree we studied is not in these chromosome segments.

CTNND2 gene mutations in a familial cortical myoclonic tremor with epilepsy family / 中风与神经疾病杂志

@#Objective　We examined mutations of Catenin Delta 2 gene（CTNND2），as the candidate gene in a Familial cortical myoclonic tremor with epilepsy（FCMTE） family. Methods　Using PCR（polymerase chain reaction，PCR） and PCR product sequencing method，we detected mutations in CTNND2 gene for members of the sick including the proband. Results　In seven patients of the family，CTNND2 gene mutation was analyzed by direct sequencing. No mutation was found in CTNND2 gene. Conclusion　CTNND2 mutations in the familial cortical myoclonic tremor with epilepsy family has not been discovered.