De novo sodium channel αl-subuult mutation of monozygotic twins with borderland severe myoclonic epilepsy in infancy / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 115-118, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-396557
ABSTRACT
Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Neurology
Ano de publicação:
2009
Tipo de documento:
Artigo
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