Epilepsy and mental retardation limited to females: an under-recognized disorder.

doi:10.1093/brain/awm338

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Article

Epilepsy and mental retardation limited to females: an under-recognized disorder.

Brain : a journal of neurology - 1 Apr 2008

Scheffer Ingrid E, Turner Samantha J, Dibbens Leanne M, Bayly Marta A, Friend Kathryn, Hodgson Bree, Burrows Linda, Shaw Marie, Wei Chen, Ullmann Reinhard, Ropers Hans-Hilger, Szepetowski Pierre, Haan Eric, Mazarib Aziz, Afawi Zaid, Neufeld Miriam Y, Andrews P Ian, Wallace Geoffrey, Kivity Sara, Lev Dorit, Lerman-Sagie Tally, Derry Christopher P, Korczyn Amos D, Gecz Jozef, Mulley John C, Berkovic Samuel F

Abstract excerpt

Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance recognition of this disorder. We ascertained four unrelated families (two Australian, two Israeli) where seizures in females were transmitted through carrier males. Detailed clinical assessment was performed on 58...

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PMID: 18234694
DOI: 10.1093/brain/awm338

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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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