Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
Epileptic Disord
; 22(6): 807-810, 2020 Dec 01.
Article
em En
| MEDLINE
| ID: mdl-33337327
ABSTRACT
Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. To date, KCNQ3 mutations have been detected in only four patients with BFIE. Here, we describe the clinical pattern and course of an additional individual with BFIE associated with a novel missense heterozygous KCNQ3 c.1850G>C variant inherited by his unaffected father. The incidence of KCNQ3 mutations among BFIE patients is reported to be low in the literature, however, whether this is underestimated is unclear as not all current epilepsy gene panels include KCNQ3.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epilepsia Neonatal Benigna
/
Canal de Potássio KCNQ3
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Epileptic Disord
Assunto da revista:
CEREBRO
/
NEUROLOGIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Itália