...-onset hypomyelinating leukodystrophy, and rarely some milder phenotypes like hereditary spastic paraplegia (HSP) type 44 (SPG44) and subclinical leukodystrophy. Herein, we report an Iranian GJC2 -related family with intrafamilial phenotypic heterogeneity and review the literatures. Methods: Whole-exome...

... have seemingly similar clinical presentations, such as in Dravet syndrome. While most patients carry mutations in SCN1A , similar phenotypes can be seen in patients with mutations in PCDH19 , CHD2 , SCN8A , or in rare cases GABRA1 and STXBP1 . In addition to the genotypic and phenotypic heterogeneity...