Purpose: Mutations of the alpha 1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). Mutations of SCN1A have been found in 40 to 100% of SMEI patients and are de novo in the majority of individuals.
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy / Marini C; Mei D; Helen Cross J; Guerrini R.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 47 (10):(2006), pp. 1737-1740. [10.1111/j.1528-1167.2006.00675.x]
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.
Marini C;GUERRINI, RENZO
2006
Abstract
Purpose: Mutations of the alpha 1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). Mutations of SCN1A have been found in 40 to 100% of SMEI patients and are de novo in the majority of individuals.
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