1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-11-04-a 10.15844/pedneurbriefs-11-1-6 Seizure Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Fragile X Mutations and Epilepsy http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 01 1997 01 05 2016 11 1 4 4 Copyright: © 1997 The Author(s) 1997 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Epilepsy and fragile X gene mutations

A posiible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene (FMR) was investigated in the Neuropediatric Department, Behandlungszentrum Vogtareuth; and Laboratory of Genetic Diagnostics, Munchen, Germany.

 Fragile X-1 Gene Mutations Rolandic Epilepsy Partial Seizures

A posiible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene (FMR) was investigated in the Neuropediatric Department, Behandlungszentrum Vogtareuth; and Laboratory of Genetic Diagnostics, Munchen, Germany. EEGs performed on 14 patients with an amplification in the FMR-1 gene showed focal sharp waves and partial seizures in sleep in 8 boys, aged 4-8 years. Of 16 children with rolandic epilepsy (BECT) studied for FMR-1 gene mutations, 1 boy was positive. [1]

COMMENT. A higher incidence of seizures or EEG abnormalities may be expected in boys with fragile X-1 gene mutations.

Kluger G Bohm I Laub MC Waldenmaier C Epilepsy and fragile X gene mutations Pediatr Neurol 1996 Nov 15 358 360 10.1016/S0887-8994(96)00251-2