EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.

doi:10.1038/gim.2016.86

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Article

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2017

Bailey Julia N, Patterson Christopher, de Nijs Laurence, Durón Reyna M, Nguyen Viet-Huong, Tanaka Miyabi, Medina Marco T, Jara-Prado Aurelio, Martínez-Juárez Iris E, Ochoa Adriana, Molina Yolli, Suzuki Toshimitsu, Alonso María E, Wight Jenny E, Lin Yu-Chen, Guilhoto Laura, Targas Yacubian Elza Marcia, Machado-Salas Jesús, Daga Andrea, Yamakawa Kazuhiro, Grisar Thierry M, Lakaye Bernard, Delgado-Escueta Antonio V

Abstract excerpt

PURPOSE: EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions of juvenile myoclonic epilepsy (JME). We reanalyzed 54 EFHC1 variants associated with epilepsy from 17 cohorts based on National Human Genome Research Institute (NHGRI) and American College of Medical Genetics and Genomics (ACMG) guidelines for interpretation of sequence variants....

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Identifiers

PMID: 27467453
DOI: 10.1038/gim.2016.86

Genes

EFHC1
TRPM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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