PMID: 8972540Nov 1, 1996Paper

Epilepsy and fragile X gene mutations

Pediatric Neurology
G KlugerC Waldenmaier

Abstract

We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular genetic analysis of the fragile X mental retardation-1 gene in 16 children with benign childhood epilepsy with centrotemporal spikes (BECT, Rolandic epilepsy). Fourteen young male patients with fragile X syndrome, verified by a full mutation in exon 1 of the fragile X mental retardation-1 gene, were studied by electroencephalography. In eight boys aged between 4-8 years we observed focal sharp waves, activated by sleep. In six of these patients, partial seizures occurred during sleep. We detected no epileptiform electroencephalographic abnormalities under the age of 4 and over the age of 8. In 16 children with Rolandic epilepsy who were studied for fragile X gene mutations, one boy proved to carry a fragile X premutation. In the waking state electroencephalography of a 5-year-old girl with a premutation in one of her fragile X mental retardation-1 genes, we found groups of generalized spike wave complexes. Our observa...Continue Reading

References

Feb 1, 1992·Lancet·R G PergolizziW T Brown
Feb 1, 1991·American Journal of Medical Genetics·S A MusumeciC A Tassinari
Jul 15, 1994·American Journal of Medical Genetics·D Z LoeschJ Mulley
Mar 1, 1994·Human Molecular Genetics·A L ReissD L Nelson
Jul 1, 1994·Neurology·A L ReissL Freund

❮ Previous
Next ❯

Citations

Dec 7, 2000·Mental Retardation and Developmental Disabilities Research Reviews·R Caplan, J K Austin
Feb 14, 2009·Molecular Neurobiology·Cheryl L Gatto, Kendal Broadie
Mar 23, 2000·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·R FerriS A Musumeci
Aug 17, 1999·Epilepsia·S A MusumeciM Elia
Apr 28, 2009·Epilepsy Research·Verna LouhivuoriMaija L Castrén
Feb 22, 2001·Seizure : the Journal of the British Epilepsy Association·M SabaratnamS K Gangadharan
Oct 16, 2010·American Journal on Intellectual and Developmental Disabilities·Elizabeth Berry-KravisDonald B Bailey
Mar 3, 2004·Mental Retardation and Developmental Disabilities Research Reviews·Andrea Beckel-Mitchener, William T Greenough
Dec 31, 2019·Behavioural Neurology·Marco CarotenutoRosa Marotta
Feb 26, 2019·Frontiers in Synaptic Neuroscience·Claudia DanesiMaija L Castrén
Sep 28, 2016·Intractable & Rare Diseases Research·Reymundo LozanoRandi J Hagerman

❮ Previous
Next ❯

Related Concepts

Related Feeds

Benign Rolandic Epilepsy

Benign Rolandic epilepsy is a partial idiopathic epilepsy of childhood presenting with a nocturnal seizure and with a typical EEG showing centrotemporal spike and multifocal or generalized sharp slow waves. Here is the latest research.