From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit

Neurologia i Neurochirurgia Polska - Tập 49 - Trang 258-266 - 2015
Dorota Hoffman-Zacharska1,2, Elżbieta Szczepanik3, Iwona Terczynska3, Alicja Goszczanska-Ciuchta3, Zofia Zalewska-Miszkurka3, Renata Tataj1, Jerzy Bal1
1Department of Medical Genetics, Institute of Mother and Child, Poland
2Institute of Genetics and Biotechnology, Warsaw University, Poland
3Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Poland

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Neurologia i Neurochirurgia Polska

Tập 49

258-266

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