Dataset Information

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca²⁺-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.

ABSTRACT: The aim of this study was to identify disease-causing gene mutations in a Chinese family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a 4-generation pedigree of 27 members in the Southern Chinese Han population, including 11 individuals diagnosed with ADNFLE. DNA samples were collected from 15 family members, chinese han people, including seven affected and eight unaffected individuals. None of these patients had night blindness or visual disorders. Four affected individuals were screened for mutations using whole-exome sequencing, and 13 potentially interesting mutations shared by all the four affected individuals were validated using the Sanger sequencing method. Only one novel missense mutation c.464G>A (p.G155D) in the CABP4 gene, encoding the neuro

SUBMITTER: Chen ZH

PROVIDER: S-EPMC5668010 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Dataset Information

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca²⁺-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.

OmicsDI is part of the ELIXIR infrastructure

Tweets

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca²⁺-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.