RESUMO
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI, even within the same family. This indicates that genotype-phenotype relationships for KCNT1 mutations are not straightforward. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than ADNFLE and MMFSI. KCNT1 mutations are now associated with Ohtahara syndrome, MMFSI, and nocturnal focal epilepsy. They may also be associated with multifocal epilepsy and cardiac disturbances.
Assuntos
Epilepsias Parciais/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Canais de Potássio/genética , Adolescente , Idade de Início , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Canais de Potássio Ativados por Sódio , Morte Súbita do Lactente/genéticaRESUMO
Nonconvulsive status epilepticus (NCSE) is defined by cognitive or behavioural changes for at least 30 minutes supplemented with evidence of seizures on electroencephalogram (EEG). NCSE constitutes 25% of all cases of status epilepticus (SE) and the highest incidence is seen among children below one year of age. The condition frequently occurs in patients with neurological injuries, specific epilepsy syndromes, learning disabilities and in the course of convulsive SE. Aggressive treatment is recommended for complex partial NCSE and in comatose patients and cautious treatment is recommended in absence and simple partial NCSE.
Assuntos
Estado Epiléptico , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Diagnóstico Diferencial , Eletroencefalografia , Humanos , Lactente , Recém-Nascido , Estado Epiléptico/classificação , Estado Epiléptico/complicações , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamento farmacológicoRESUMO
This case report describes nonconvulsive status epilepticus of complex partial type in a 12-year-old, otherwise healthy girl. The case illustrates the characteristic epileptic twilight state with prolonged bizarre behaviour, psychosis, confusion and normal mental state. It may be difficult to identify the condition in childhood, as changes in behaviour and cognition are often recognized later than in adults. Treatment recommendations and other possible diagnoses are discussed.
Assuntos
Estado Epiléptico , Anticonvulsivantes/uso terapêutico , Criança , Clonazepam/administração & dosagem , Clonazepam/uso terapêutico , Diagnóstico Diferencial , Eletroencefalografia , Feminino , Humanos , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/psicologia , Ácido Valproico/administração & dosagem , Ácido Valproico/uso terapêuticoRESUMO
Sydenham's Chorea (SC), a major manifestation of acute Rheumatic Fever, is an important cause of acquired chorea in childhood. The disorder is characterized by chorea, muscular weakness and a number of neuropsychiatric symptoms. The diagnosis of SC is based on clinical observation. There have been no double-blind, randomized studies to evaluate the symptomatic treatment of SC.