KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.
Neurology
; 82(4): 368-70, 2014 Jan 28.
Article
en En
| MEDLINE
| ID: mdl-24371303
ABSTRACT
Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Epilepsia Benigna Neonatal
/
Canal de Potasio KCNQ2
/
Anticonvulsivantes
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Neurology
Año:
2014
Tipo del documento:
Article
País de afiliación:
Francia