Dorota Hoffman Zacharskaa and colleagues report a study done on report families presenting different and intrafamilial heterogeneous epileptic phenotypes accompanied by migraine, GEFS+, DS, Epilepsy and Mental Retardation Limited to Females (EFMR) of non-classical phenotype and West Syndrome (WS) with atypical course. They identified a SCN1A p.Thr1174Ser mutation as a possibly causative factor of familial GEFS+ syndrome. They also suggested that SCN1A p.Thr1174Ser would be considered as a factor potentially changing the phenotypes of the epileptic encephalopathies, caused by other mutations in the SCN1A, ARX or PCDH19 .
Zacharskaa, Dorota Hoffman et al. Journal of Genetic Syndromes & Gene Therapy.
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PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague