Ontology highlight
ABSTRACT:
SUBMITTER: Choi KD
PROVIDER: S-EPMC5653837 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Choi Kwang-Dong KD Kim Ji-Soo JS Kim Hyo-Jung HJ Jung Ileok I Jeong Seong-Hae SH Lee Seung-Han SH Kim Dong Uk DU Kim Sang-Ho SH Choi Seo Young SY Shin Jin-Hong JH Kim Dae-Seong DS Park Kyung-Pil KP Kim Hyang-Sook HS Choi Jae-Hwan JH
Scientific reports 20171023 1
Episodic ataxia (EA) is a rare neurological condition characterized by recurrent spells of truncal ataxia and incoordination. Five genes (KCNA1, CACNA1A, CACNB4, SLC1A3, and UBR4) have been linked to EA. Despite extensive efforts to genetically diagnose EA, many patients remain still undiagnosed. Whole-exome sequencing was carried out in 39 Korean patients with EA to identify pathogenic mutations of the five known EA genes. We also evaluated 40 candidate genes that cause EA as a secondary phenot ...[more]