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1.
Zhonghua Er Ke Za Zhi ; 57(10): 780-785, 2019 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-31594065

RESUMO

Objective: To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation. Methods: The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children's Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed. Results: There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation. Conclusions: GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.


Assuntos
Epilepsias Parciais/genética , Proteínas Ativadoras de GTPase/genética , Proteínas Repressoras/genética , Proteínas Supressoras de Tumor/genética , Grupo com Ancestrais do Continente Asiático/genética , Eletroencefalografia , Epilepsias Parciais/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Convulsões/complicações , Convulsões/genética
2.
Psychiatr Danub ; 31(Suppl 3): 467-474, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488774

RESUMO

Music is a very important factor in everyday life, involving mood, emotions and memories. The effect of music on the brain is very debated. Certainly, music activates a complex network of neurones in auditory areas, mesolimbic areas, cerebellum and multisensory areas. In particular, music exerts its effects on the brain of patients with epilepsy, having a dichotomous influence: it can either be seizure-promoting in musicogenic epilepsy or antiepileptic. Several studies have shown that seizure-prone neural networks may be stimulated by certain periodicities while other frequencies may prevent seizure activity. There are a lot of data in the literature about the so-called "Mozart effect" (Rauscher et al. 1993). In previous studies we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of the cases. In this study we are conducting a survey on the observation of what happens to the brain of patients suffering from drug-resistant epilepsy through electroencephalographic investigations, brain MRI and behavioural analysis before and after six months of listening to Mozart music (Sonata K.448). The first step is to present the data of the first patient under investigation.


Assuntos
Epilepsia/fisiopatologia , Epilepsia/reabilitação , Musicoterapia , Música/psicologia , Convulsões/prevenção & controle , Convulsões/fisiopatologia , Estimulação Acústica , Mapeamento Encefálico , Eletroencefalografia , Epilepsia/complicações , Humanos , Convulsões/complicações
3.
Cytogenet Genome Res ; 158(4): 192-198, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31394532

RESUMO

Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resulting from an unusual 10.7-Mb deletion from 15pter to 15q13.3 due to an unbalanced de novo 15;19 translocation. The patient presents with hypotonia, microcephaly, developmental delay with lack of speech, intellectual disability, happy demeanor, clinodactyly of the 4th and 5th fingers, and dysmorphic facial features discordant for PWS and consistent with an atypical phenotype.


Assuntos
Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/genética , Convulsões/complicações , Convulsões/genética , Translocação Genética/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Feminino , Humanos , Recém-Nascido
5.
Orv Hetil ; 160(29): 1143-1145, 2019 Jul.
Artigo em Húngaro | MEDLINE | ID: mdl-31303014

RESUMO

A 52-year-old woman is presented with repetitive transient loss of consciousness. Implantable loop recorder (ILR) recorded muscle artifacts during the generalized tonic-clonic seizures. Seizure was diagnosed and antiepileptic drug was started. The patient has been asymptomatic for 9 months. Orv Hetil. 2019; 160(29): 1143-1145.


Assuntos
Eletrocardiografia Ambulatorial/métodos , Epilepsia Tônico-Clônica/diagnóstico , Próteses e Implantes , Convulsões/diagnóstico , Síncope/etiologia , Anticonvulsivantes , Eletrocardiografia , Feminino , Humanos , Pessoa de Meia-Idade , Convulsões/complicações
6.
Neurologist ; 24(3): 84-86, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31045717

RESUMO

BACKGROUND AND PURPOSE: Data regarding the incidence of seizures in patients diagnosed with fat embolism syndrome (FES) are lacking. We examined the incidence of seizures in patients with FES, and the impact of seizures on outcomes over a 10-year period. METHODS: Using the National Inpatient Sample data set we identified adults (age 18 y old or above) with a diagnosis of FES (ICD-9 958.1) between 2005 and 2014, and categorized them according to the presence or absence of seizures. We excluded patients with a history of epilepsy or traumatic brain injury RESULTS:: Of the 66,227,531 discharges, we identified 1888 patients (0.003%) with FES of which 53% were male and mean age of 56 (±57.45). Seizure or epilepsy rate in patients with FES was 2.86% (1.69% with seizures and 1.16% with epilepsy), as compared with 3.6% in all hospitalized patients without FES. The Charlson Comorbidity Index for all FES patients was 2.38 (±5.28) and was similar for those with and without seizures. Hospital length of stay was higher in patients with FES and seizures versus those without seizures (14.59 vs. 10.82 d, P=0.09). No statistically significant difference in mortality was observed between the 2 groups. CONCLUSIONS: The rate of seizure and epilepsy in patients with FES is low when compared with rates in all hospitalized patients or in patients with other causes of acute neurological injury such as intracerebral hemorrhage, subarachnoid hemorrhage, and traumatic brain injury. Further studies are needed to provide recommendations for antiepileptic medication use in FES.


Assuntos
Embolia Gordurosa/epidemiologia , Convulsões/epidemiologia , Bases de Dados Factuais , Embolia Gordurosa/complicações , Epilepsia/complicações , Epilepsia/epidemiologia , Feminino , Humanos , Incidência , Pacientes Internados/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Convulsões/complicações
7.
Neurol India ; 67(2): 442-447, 2019 Mar-Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31085857

RESUMO

Objective: To study the prevalence and clinical characteristics of malformation of cortical development (MCD) and incomplete hippocampal inversion (IHI) in adults with intractable seizures. Materials and Methods: In this prospective study of 3220 epileptic patients in our epilepsy clinic between 2012 and 2014, 416 had intractable seizures. In all patients, a detailed clinical history, neurological examination, electroencephalography (EEG), computed tomography (CT) scan, magnetic resonance imaging (MRI) brain, and neuropsychological assessment was conducted to identify MCD and IHI. Results: Out of 416 patients with intractable seizures, MCD and IHI were confirmed in 85 patients (48 males, 37 females). MCD was observed in 46 (11.05%) patients and IHI were observed in 39 (9.37%) patients. Chi square test revealed no signi cant difference between the MCD and IHI groups across the patients in different age groups, gender, type of seizure, duration and onset of seizure, seizure frequency, clustering, status epilepticus, EEG, febrile seizures, and family history. Statistically significant differences (P < 0.05) were observed between the MCD and IHI groups for change in seizure semiology and in intelligence quotient (IQ) and memory quotient (MQ) scores obtained using Wechsler's adult intelligence scale III and Wechsler's memory scale. The IHI group showed higher IQ and MQ scores when compared to the MCD group. Furthermore, IHI occurred along with MCD in 6.52% (N = 3) of the population. Conclusion: MCD and IHI patients are often associated with intractable complex partial seizures. Intractable epilepsy patients with normal intelligence and normal MRI should be investigated with hippocampal volumetric studies to identify the presence of IHI. Isolated IHI can be considered as a form of MCD because it mimics the clinical features of MCDs.


Assuntos
Hipocampo/cirurgia , Malformações do Desenvolvimento Cortical/epidemiologia , Convulsões/complicações , Estado Epiléptico/epidemiologia , Adolescente , Adulto , Córtex Cerebral/anormalidades , Córtex Cerebral/cirurgia , Feminino , Hipocampo/fisiopatologia , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Convulsões/cirurgia
8.
Epilepsy Res ; 153: 28-33, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30947078

RESUMO

PURPOSE: The aim of this study was to analyze patients whose only manifestation of epilepsy were generalized tonic-clonic seizures (GTCS) during childhood and discuss its validity as separate syndrome of childhood. METHODS: We included children with at least two unprovoked GTCS between 3 and 11 years of age, no other seizure types at diagnosis, normal psychomotor development and neurological examination, an EEG with normal background and paroxysms of generalized spikes and waves with a frequency 2.5 Hz or above, and an unknown cause for epilepsy. Only patients with a follow-up >2 years were included. RESULTS: Over a 12-year period (2005-2017) 26 patients met the inclusion criteria of epilepsy with GTCS only. Mean age at onset was 5 years. The seizures occurred while awake in 16 patients, on awakening in two, and during sleep in eight patients. The duration of seizures was around 3 min. Generalized spike-and-wave discharges were observed in all patients when awake and during sleep in eight and 26 patients, respectively. Nineteen responded well to valproic acid or levetiracetam. Two patients who received clobazam initially did not respond well; however, a switch to valproic acid resulted in excellent seizure control. Antiepileptic treatment was discontinued in sixteen patients who remained seizure free over a period of 2-9 years of follow-up. CONCLUSION: Epilepsy with GTCS alone in childhood is a type of epilepsy; however, it may be considered as a well-defined epileptic syndrome. Patients responded well to valproic acid or levetiracetam.


Assuntos
Epilepsia/complicações , Convulsões/complicações , Adolescente , Idade de Início , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/tratamento farmacológico , Feminino , Humanos , Transtornos da Linguagem/etiologia , Estudos Longitudinais , Masculino , Estudos Retrospectivos , Convulsões/diagnóstico por imagem , Convulsões/tratamento farmacológico
9.
Epilepsy Res ; 153: 59-65, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30999260

RESUMO

OBJECTIVE: To assess the long-term safety and efficacy of eslicarbazepine acetate (ESL) monotherapy in adults with focal seizures (FS). METHODS: Study 050 was a long-term, multicenter, open-label (OL) safety extension of two conversion-to-ESL monotherapy studies in adults with refractory FS. After participating in Study 045 or 046, patients started on ESL 1600 mg once daily (QD) (or 1200 mg if they previously had a dose reduction), and could adjust the dose 400 mg/week to a dose between 800-2400 mg QD. Patients could add up to two additional antiepileptic drugs (AEDs). This post-hoc analysis focuses on the actual monotherapy subgroup, which included patients in Studies 045/046/050 who did not add additional AEDs. Study endpoints included treatment retention time, time on ESL monotherapy, change in standardized seizure frequency (SSF), change in quality of life (QoL) in epilepsy (QOLIE-31) and Montgomery-Åsberg Depression Rating Scale (MADRS) scores, and incidence of treatment-emergent adverse events (TEAEs); serious adverse events (SAEs), TEAEs leading to discontinuation, and TEAEs related to allergic reaction, hyponatremia and thyroid function were also evaluated. RESULTS: There were 274 patients in the Study 050 full intent-to-treat (ITT) population and 140 patients in the actual monotherapy subgroup. Median treatment retention time and time on ESL monotherapy were both >5 years. Median reduction in SSF from baseline was 66.4% in the full ITT population and 78.3% in the actual monotherapy subgroup; responder (≥50% reduction in SSF) rates were 62.4% and 74.3%, respectively. QOLIE-31 scores increased from baseline in the full ITT population and the actual monotherapy subgroup (4.1- and 7.5-point increases, respectively). MADRS scores decreased from baseline in both the full ITT population and the actual monotherapy subgroup (0.7- and 2.9-point decreases, respectively). TEAEs occurred in 85.4% of patients in the full ITT population and 81.4% of patients in the actual monotherapy subgroup. Incidences of SAEs and TEAEs leading to discontinuation, as well as dizziness, depression, fall, partial seizures with secondary generalization, and complex partial seizures, were higher in the full ITT population than in the actual monotherapy subgroup. Allergic reactions, hyponatremia, and hypothyroidism were infrequent, particularly in the actual monotherapy subgroup. CONCLUSIONS: The results of this post-hoc analysis suggest that long-term treatment with ESL was effective and well tolerated, both as a monotherapy and in combination with other AEDs for FS. QoL and tolerability appeared to be better, and incidence of depression lower, in the patient population taking ESL as a monotherapy, compared with the population that included patients taking ESL as an adjunctive therapy.


Assuntos
Anticonvulsivantes/uso terapêutico , Dibenzazepinas/uso terapêutico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Convulsões/tratamento farmacológico , Resultado do Tratamento , Adolescente , Adulto , Idoso , Depressão/diagnóstico , Depressão/etiologia , Método Duplo-Cego , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Convulsões/complicações , Convulsões/psicologia , Adulto Jovem
10.
Fortschr Neurol Psychiatr ; 87(7): 375-379, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-30991422

RESUMO

INTRODUCTION: Epilepsy and psychosis are not only closely related by clinical phenomena but presumably by causal factors, too. There is evidence that long-standing epileptic seizures can induce chronic psychosis. Whether chronic psychosis can cause epilepsy remains to be further investigated. CASE REPORT: We report a case of a 28-year-old man with chronic psychosis since early childhood who developed epilepsy many years after the onset of the psychosis. Medical treatment resulted in complete remission of psychosis and seizures. CONCLUSION: 1.) This case could be a further example for the bidirectional causality of psychosis and epilepsy. 2.) A conditioning psychosis could be understood as a variety of interictal psychosis and complement current classifications.


Assuntos
Epilepsia/etiologia , Transtornos Psicóticos/complicações , Adulto , Epilepsia/complicações , Humanos , Masculino , Transtornos Psicóticos/etiologia , Convulsões/complicações , Convulsões/etiologia , Fatores de Tempo
11.
Gene ; 704: 97-102, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-30978478

RESUMO

In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths due to a novel mutation in the ASNS gene c.788C > T (p.S263F) and both the children presented with microcephaly and one of them had severe intracranial haemorrhage. The proband from the second family was homozygous for c.146G > A (p.R49Q) and manifested myoclonic seizures, developmental delay, coarse hair and diffuse cortical atrophy. Molecular docking studies of both the mutations revealed alteration in the ligand binding site. Till date, 26 mutations were reported in ASNS gene in 29 affected children indicating high degree of genetic heterogeneity and high mortality. Although asparagine depletion is not of diagnostic utility, multiple linear regression model suggested that asparagine levels vary to the extent of 20.6% based on glutamine and aspartate levels and ASNS deficiency results in depletion of asparagine synthesis. ASNS deficiency should be suspected in any neonate with microcephaly and epileptic encephalopathy.


Assuntos
Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida/genética , Deficiências do Desenvolvimento/genética , Microcefalia/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Grupo com Ancestrais do Continente Asiático , Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida/deficiência , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/patologia , Família , Feminino , Humanos , Índia , Lactente , Recém-Nascido , Hemorragias Intracranianas/congênito , Hemorragias Intracranianas/genética , Masculino , Microcefalia/patologia , Técnicas de Diagnóstico Molecular , Morte Perinatal , Convulsões/complicações , Convulsões/genética
12.
Artigo em Inglês | MEDLINE | ID: mdl-30844417

RESUMO

Epilepsy is marked by seizures that are a manifestation of excessive brain activity and is symptomatically treatable by anti-epileptic drugs (AEDs). Unfortunately, the older AEDs have many side effects, with cognitive impairment being a major side effect that affects the daily lives of people with epilepsy. Thus, this study aimed to determine if newer AEDs (Zonisamide, Levetiracetam, Perampanel, Lamotrigine and Valproic Acid) also cause cognitive impairment, using a zebrafish model. Acute seizures were induced in zebrafish using pentylenetetrazol (PTZ) and cognitive function was assessed using the T-maze test of learning and memory. Neurotransmitter and gene expression levels related to epilepsy as well as learning and memory were also studied to provide a better understanding of the underlying processes. Ultimately, impaired cognitive function was seen in AED treated zebrafish, regardless of whether seizures were induced. A highly significant decrease in γ-Aminobutyric Acid (GABA) and glutamate levels was also discovered, although acetylcholine levels were more variable. The gene expression levels of Brain-Derived Neurotrophic Factor (BDNF), Neuropeptide Y (NPY) and Cyclic Adenosine Monophosphate (CAMP) Responsive Element Binding Protein 1 (CREB-1) were not found to be significantly different in AED treated zebrafish. Based on the experimental results, a decrease in brain glutamate levels due to AED treatment appears to be at least one of the major factors behind the observed cognitive impairment in the treated zebrafish.


Assuntos
Anticonvulsivantes/efeitos adversos , Disfunção Cognitiva/induzido quimicamente , Pentilenotetrazol , Convulsões/tratamento farmacológico , Convulsões/psicologia , Peixe-Zebra/fisiologia , Acetilcolina/metabolismo , Animais , Encéfalo/metabolismo , Fator Neurotrófico Derivado do Encéfalo/biossíntese , Disfunção Cognitiva/complicações , AMP Cíclico/biossíntese , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/biossíntese , Interações de Medicamentos , Expressão Gênica/efeitos dos fármacos , Ácido Glutâmico/metabolismo , Locomoção/efeitos dos fármacos , Aprendizagem em Labirinto/efeitos dos fármacos , Neuropeptídeo Y/biossíntese , Convulsões/induzido quimicamente , Convulsões/complicações , Ácido gama-Aminobutírico/metabolismo
13.
Brain Dev ; 41(6): 551-554, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30850156

RESUMO

BACKGROUND: Rhinovirus is a common respiratory pathogen for children throughout the year; nevertheless, its central nervous system involvement is extremely rare, and only two cases have been reported to date: meningitis and sepsis-like illness. PATIENT: A previously healthy 2-year-old Japanese boy developed fever, followed by seizures and lethargy. His cerebrospinal fluid cell count and protein level were slightly increased; brain magnetic resonance imaging showed abnormal intensities in the bilateral cerebellar dentate nuclei, which were prominent in diffusion-weighted images. After his consciousness disturbance improved, cerebellar dysfunction became apparent. He was treated symptomatically, without steroids or any other immunosuppressants. He almost recovered within a few months; however, cerebellar atrophy became evident on brain magnetic resonance imaging. Using acute specimens, human rhinovirus A was detected in his throat swab and cerebrospinal fluid. DISCUSSION: Acute cerebellitis, in which cerebellar inflammation is predominant, is occasionally accompanied by cerebral symptoms, such as consciousness disturbance and seizures. As a causative pathogen, rotavirus is the most common; however, rhinovirus-associated acute encephalitis/encephalopathy and concurrent cerebellitis have not been reported before. Further research, using recent molecular techniques to detect various central nervous system pathogens, including rhinovirus, is needed to delineate the underlying pathophysiology.


Assuntos
Enterovirus/patogenicidade , Encefalite Infecciosa/etiologia , Encefalite Infecciosa/fisiopatologia , Encefalopatias/complicações , Sistema Nervoso Central/virologia , Doenças Cerebelares/patologia , Cerebelo/patologia , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Encefalite/patologia , Febre/complicações , Humanos , Japão , Masculino , Rhinovirus/patogenicidade , Rotavirus/patogenicidade , Infecções por Rotavirus/complicações , Convulsões/complicações
14.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 37(1): 109-112, 2019 Feb 01.
Artigo em Chinês | MEDLINE | ID: mdl-30854831

RESUMO

Congenital infiltrating lipomatosis of the face is a rare disorder resulting from overgrowth of adipose tissues. This condition presents gradually with swelling along with age, hypertrophy of adjacent bones, and tooth abnormalities. This study reports a case of congenital infiltrating lipomatosis of face with seizures and reviews relevant literature on the etiology, clinical symptom, diagnosis, and treatment of this condition.


Assuntos
Lipomatose , Convulsões , Tecido Adiposo , Face , Humanos , Lipomatose/complicações , Convulsões/complicações
15.
Dev Med Child Neurol ; 61(6): 661-666, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30714130

RESUMO

AIM: This population-based study aimed to estimate the impact of neonatal seizures on subsequent neurological outcomes, regardless of underlying etiology. METHOD: We performed a retrospective cohort study (1st January 2009-31st December 2014), using a USA nationwide claims database. Newborn infants enrolled in 2009 were followed for up to 6 years. Neonatal seizures were identified by combining the International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis code of 779.0 (convulsions in newborn), procedure codes of electroencephalogram and brain imaging, and antiepileptic drugs claims. Cox regression models were built to estimate the independent impact of neonatal seizures on developing epilepsy, intellectual disability, psychiatric/behavioral disorders, and headache. RESULTS: Out of 490 071 newborn infants (251 850 males [51.4%], 238 221 females [48.6%]), 800 neonatal seizure cases were identified. After controlling for sex, birthweight, preterm birth status, and underlying etiology, neonates with seizures were more likely to have epilepsy (hazard ratio=32.7; 95% confidence interval [CI]=27.7-38.7; p<0.001), intellectual disability (hazard ratio=2.0; 95% CI=1.8-2.3; p<0.001), and headache (hazard ratio=1.6; 95% CI=1.1-2.2; p=0.013) than those without seizures. INTERPRETATION: Observed covariates being equal, seizures in neonates appeared to play a significant role in developing epilepsy, intellectual disability, and headache. The findings showed a detrimental impact of the event in the very early life on neurological outcomes in later life. WHAT THIS PAPER ADDS: Seizures had their own impact on the development of adverse neurological outcomes. The magnitude of impact was quite large in epilepsy.


Assuntos
Epilepsia/epidemiologia , Cefaleia/epidemiologia , Doenças do Recém-Nascido/epidemiologia , Deficiência Intelectual/epidemiologia , Convulsões/epidemiologia , Pré-Escolar , Bases de Dados Factuais , Epilepsia/etiologia , Feminino , Cefaleia/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Convulsões/complicações , Estados Unidos/epidemiologia
16.
Artigo em Inglês | MEDLINE | ID: mdl-30742861

RESUMO

Traumatic brain injury (TBI) is a devastating disease frequently followed by behavioral disabilities including post-traumatic epilepsy (PTE). Although reasonable progress in understanding its pathophysiology has been made, treatment of PTE is still limited. Several studies have shown the neuroprotective effect of creatine in different models of brain pathology, but its effects on PTE is not elucidated. Thus, we decided to investigate the impact of delayed and chronic creatine supplementation on susceptibility to epileptic seizures evoked by pentylenetetrazol (PTZ) after TBI. Our experimental data revealed that 4 weeks of creatine supplementation (300 mg/kg, p.o.) initiated 1 week after fluid percussion injury (FPI) notably increased the latency to first myoclonic and tonic-clonic seizures, decreased the time spent in tonic-clonic seizure, seizure intensity, epileptiform discharges and spindle oscillations induced by a sub-convulsant dose of PTZ (35 mg/kg, i.p.). Interestingly, this protective effect persists for 1 week even when creatine supplementation is discontinued. The anticonvulsant effect of creatine was associated with its ability to reduce cell loss including the number of parvalbumin positive (PARV+) cells in CA3 region of the hippocampus. Furthermore, creatine supplementation also protected against the reduction of GAD67 levels, GAD activity and specific [3H]flunitrazepam binding in the hippocampus. These findings showed that chronic creatine supplementation may play a neuroprotective role on brain excitability by controlling the GABAergic function after TBI, providing a possible new strategy for the treatment of PTE.


Assuntos
Lesões Encefálicas Traumáticas/complicações , Creatina/farmacologia , Epilepsia Pós-Traumática/complicações , Epilepsia Pós-Traumática/prevenção & controle , Neurônios GABAérgicos/efeitos dos fármacos , Convulsões/complicações , Convulsões/prevenção & controle , Animais , Lesões Encefálicas Traumáticas/tratamento farmacológico , Lesões Encefálicas Traumáticas/patologia , Ondas Encefálicas/efeitos dos fármacos , Região CA3 Hipocampal/metabolismo , Região CA3 Hipocampal/patologia , Morte Celular/efeitos dos fármacos , Creatina/uso terapêutico , Epilepsia Pós-Traumática/tratamento farmacológico , Flunitrazepam/metabolismo , Glutamato Descarboxilase/metabolismo , Masculino , Fármacos Neuroprotetores/uso terapêutico , Pentilenotetrazol , Ensaio Radioligante , Ratos , Convulsões/induzido quimicamente , Fatores de Tempo , Trítio/metabolismo
17.
J Med Case Rep ; 13(1): 36, 2019 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-30773142

RESUMO

INTRODUCTION: Cerebral venous thrombosis is relatively rare and characterized by a wide spectrum of clinical features. It is more common in young adults with women affected more than men. The diagnosis of cerebral venous thrombosis is easier nowadays due to easy access to advanced neuroimaging techniques. Abnormalities in thrombophilic profile are associated with enhanced risk of cerebral venous thrombosis. It has varied etiologies such as hypercoagulable states, infection, dehydration, pregnancy, and substance abuse. Hyperhomocysteinemia is found to be closely associated with an enhanced risk of cerebral venous thrombosis. CASE PRESENTATION: Here we report a case of cerebral venous thrombosis secondary to hyperhomocysteinemia caused by vitamin B12 deficiency in a 32-year-old Indo-Aryan man. A detailed coagulation workup led us to find the etiology of cerebral venous thrombosis in this patient who followed a strict vegetarian diet and had vitamin B12 deficiency leading to hyperhomocysteinemia. CONCLUSION: There are conflicting reports in the literature about the association of hyperhomocysteinemia, B12 deficiency, and cerebral venous thrombosis but some reports point to a significant association. We conclude that further studies with a large sample size are required to analyze the effect of hyperhomocysteinemia and low vitamin B12 on the risk of cerebral venous thrombosis.


Assuntos
Hiper-Homocisteinemia/etiologia , Trombose Intracraniana/etiologia , Deficiência de Vitamina B 12/complicações , Adulto , Anticoagulantes/uso terapêutico , Anticonvulsivantes/uso terapêutico , Encéfalo/diagnóstico por imagem , Diuréticos Osmóticos/uso terapêutico , Glicerol/uso terapêutico , Heparina/uso terapêutico , Humanos , Hiper-Homocisteinemia/sangue , Hiper-Homocisteinemia/tratamento farmacológico , Trombose Intracraniana/diagnóstico por imagem , Trombose Intracraniana/tratamento farmacológico , Imagem por Ressonância Magnética , Masculino , Manitol/uso terapêutico , Convulsões/complicações , Convulsões/tratamento farmacológico , Ácido Valproico/uso terapêutico , Vitamina B 12/análogos & derivados , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/tratamento farmacológico , Complexo Vitamínico B/uso terapêutico , Varfarina/uso terapêutico
18.
Seizure ; 65: 159-165, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30721872

RESUMO

PURPOSE: Data relating to the role that Human immunodeficiency virus (HIV) contributes towards seizures in HIV-infected children is limited. The management of seizures in this group is complex due to potential interactions between antiseizure medication and antiretroviral therapies. This study explores the seizure semiology and course of a population of affected children based on questions raised from a previous epidemiological study. METHODS: A retrospective case-control study of all patients presenting to an HIV neurology clinic between 2008-2015 was conducted. A multinomial logistic regression model was used to identify risk factors for seizure occurrence in HIV-infected children, as well as factors associated with seizure control. RESULTS: Of 227 HIV-infected children (median 82 months, interquartile range 41-109), 52 (23%) reported a past or present history of seizures. Prior bacterial meningitis (p = 0.03, OR 12.5, 95% CI 1.2-136.1), cerebrovascular accident (CVA, p = 0. 005, OR 8.1, 95% CI 1.9-34.9) and or tuberculous meningitis (TBM, p = 0.0004) was associated with an increased risk of seizures in HIV-infected children. Generalised tonic-clonic seizures were the predominant seizure type (64%) with the majority caused by an infectious aetiology (62%). Thirty-two (62%) of these patients had epilepsy in-line with the latest diagnostic criteria. HIV-infected children with epilepsy who were treated with efavirenz were more likely to have poor seizure control (OR 23.1 95% CI 3.4-159.6, p = 0.0001). CONCLUSIONS: This study provides new data highlighting the complex clinical presentation and management challenges of HIV-infected children with seizures.


Assuntos
Infecções por HIV/complicações , Infecções por HIV/epidemiologia , Convulsões/complicações , Convulsões/epidemiologia , Adolescente , Anticonvulsivantes/uso terapêutico , Antivirais/uso terapêutico , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Infecções por HIV/diagnóstico por imagem , Infecções por HIV/tratamento farmacológico , Humanos , Lactente , Masculino , Neuroimagem , Fatores de Risco , Convulsões/diagnóstico por imagem , Convulsões/tratamento farmacológico , África do Sul/epidemiologia , Estatísticas não Paramétricas
19.
Seizure ; 66: 22-25, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30772644

RESUMO

PURPOSE: The purpose of this study was to investigate the long-term outcome of patients with psychogenic nonepileptic seizures (PNES), who never visited a psychologist and never received a proper therapy for their condition (due to lack of resources). We also aimed to investigate factors potentially associated with the outcome in these patients. METHODS: We studied all patients with PNES, who were admitted to the epilepsy monitoring unit at the Shiraz Comprehensive Epilepsy Center, from 2008 until 2013. In a phone call interview to the patients in November and December 2018, we obtained the following information: seizure outcome, history of receiving any psychotherapy after confirming their diagnosis at referral, and finally, their current marital status, education, and employment status. RESULTS: 69 patients had the inclusion criteria. Thirty-six patients (52%) were seizure-free during the past 12 months, but 33 (48%) still suffer from seizures. The only variable (at diagnosis), which was significantly associated with their outcome, was duration of their condition before they received a definite diagnosis. CONCLUSION: More than half of the patients with untreated PNES may become free of seizures after they receive a definite diagnosis and with the passage of time. Longer duration of PNES before the patients received a definite diagnosis may affect their long-term outcome.


Assuntos
Transtorno Conversivo , Convulsões , Transtornos Somatoformes , Adulto , Transtorno Conversivo/complicações , Transtorno Conversivo/psicologia , Transtorno Conversivo/reabilitação , Eletroencefalografia , Feminino , Humanos , Estudos Longitudinais , Masculino , Psicoterapia/métodos , Convulsões/complicações , Convulsões/psicologia , Convulsões/reabilitação , Transtornos Somatoformes/complicações , Transtornos Somatoformes/psicologia , Transtornos Somatoformes/reabilitação , Resultado do Tratamento , Adulto Jovem
20.
Eur J Paediatr Neurol ; 23(2): 270-279, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30737142

RESUMO

OBJECTIVES: To evaluate the predictive factors for status epilepticus (SE) in neonates and prognostic factors for patient outcomes in newborns suffering either isolated seizures or SE. METHODS: A retrospective single-center study from January 2010 to December 2014, included 91 newborns who had neonatal seizures. Among them, 50 newborns experienced SE and 41 newborns presented isolated seizures only. SE was defined as a single seizure lasting more than 15 min or repeated seizures without return to preictal neurological baseline for more than 15 min. Isolated seizures were defined as one single seizure lasting less than 15 min or more seizures with complete recovery of consciousness between seizures. Perinatal and electroclinical data were recorded. Outcomes were evaluated at one year follow up. RESULTS: In multivariate analysis, the factors identified as being predictive of SE were a severely abnormal initial neurological examination (OR 15.7, 95% CI (3.8-109) p = 0.00075) and hypoglycaemia (OR 6.8, 95% CI (1.5-49.2) p = 0.024), found mostly in newborns with hypoxic-ischemic encephalopathy. When studying our global cohort, SE was found to be a negative prognostic factor for outcome only in univariate analysis. In newborns with isolated seizures only, the postictal clinical examination results were the only independent prognostic factor found, normal results being associated with a more favorable evolution (OR 48.9, 95% CI (7.16-571) p = 0.0003). CONCLUSION: Two independent risk factors for SE in newborns have been identified: a severely abnormal initial neurological examination and hypoglycaemia. In newborns with isolated seizures, the only positive prognostic factor was found to be a normal postictal clinical examination.


Assuntos
Doenças do Recém-Nascido , Fatores de Risco , Estado Epiléptico , Estudos de Coortes , Eletroencefalografia , Feminino , Humanos , Hipoglicemia/complicações , Hipóxia-Isquemia Encefálica/complicações , Recém-Nascido , Masculino , Análise Multivariada , Exame Neurológico , Prognóstico , Estudos Retrospectivos , Convulsões/complicações , Estado Epiléptico/complicações
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