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Article

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.

Epilepsia - 1 Feb 2015

Subaran Ryan L, Conte Juliette M, Stewart William C L, Greenberg David A

Abstract excerpt

OBJECTIVE: Screening for specific coding mutations in the EFHC1 gene has been proposed as a means of assessing susceptibility to juvenile myoclonic epilepsy (JME). To clarify the role of these mutations, especially those reported to be highly penetrant, we sought to measure the frequency of exonic EFHC1 mutations across multiple population samples. METHODS: To find and test variants of large effect, we sequenced...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25489633
DOI: 10.1111/epi.12864
PMCID: PMC4354299

Genes

EFHC1

Variants

rs149055334
rs149055334

Provenance

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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