[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. / Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes.
Med Clin (Barc)
; 143(1): 25-8, 2014 Jul 07.
Article
em Es
| MEDLINE
| ID: mdl-24768197
ABSTRACT
BACKGROUND AND OBJECTIVE:
Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC. PATIENTS ANDMETHOD:
It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified.RESULTS:
Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each).CONCLUSIONS:
In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Motilidade Ocular
/
Mutação Puntual
/
ATPase Trocadora de Sódio-Potássio
/
Mutação de Sentido Incorreto
/
Distúrbios Distônicos
/
Hemiplegia
Tipo de estudo:
Observational_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
Es
Revista:
Med Clin (Barc)
Ano de publicação:
2014
Tipo de documento:
Article