Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.
Eur J Paediatr Neurol
; 19(2): 240-2, 2015 Mar.
Article
en En
| MEDLINE
| ID: mdl-25500575
ABSTRACT
We describe two siblings born to consanguineous Arab-Muslim parents who presented in early infancy with myoclonic seizures, hypertonia and contractures, arrested head growth, inability to swallow, and bouts of apnea-bradycardia, culminating in cardiac arrest and death. Whole-genome sequencing yielded a c.1173delG mutation in the BRAT1 gene. Three recent reports identified mutations in the same gene in three infants from three Amish sibships, one Mexican neonate and two Japanese siblings with similar clinical manifestations. The authors speculated that the destabilization of the encoded protein may underlie the catastrophic epilepsy and corticobasal neuronal degeneration. We suggest that BRAT1 be added to the growing list of genes that are related to severe early infantile (neonatal) epileptic encephalopathy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Convulsiones
/
Proteínas Nucleares
/
Rigidez Muscular
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Eur J Paediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article