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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 - 1 Jan 2015

Hoffman-Zacharska Dorota, Szczepanik Elżbieta, Terczynska Iwona, Goszczanska-Ciuchta Alicja, Zalewska-Miszkurka Zofia, Tataj Renata, Bal Jerzy

Abstract excerpt

OBJECTIVE: The aim of this study was to analyze the intra-/interfamilial phenotypic heterogeneity due to variants at the highly evolutionary conservative p.Arg1596 residue in the Nav1.1 subunit. MATERIALS/PARTICIPANTS: Among patients referred for analysis of the SCN1A gene one recurrent, heritable mutation was found in families enrolled into the study. Probands from those families even clinically diagnosed with...

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PMID: 26188943
DOI: 10.1016/j.pjnns.2015.06.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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