Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12

Epilepsia
Samuel F BerkovicM Pandolfo

Abstract

Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in different family members in the absence of detectable structural abnormalities. A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families. We describe the clinical features and performed a linkage analysis in a Spanish kindred and in a third French-Canadian family distantly related to the original pedigrees. Onset of seizures was typically in middle childhood, and attacks were usually easy to control. Seizure semiology varied among family members but was constant for each individual. In some, a pattern of nocturnal frontal lobe seizures led to consideration of the diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The Spanish family was mapped to chromosome 22q (multipoint lod score, 3.4), and the new French-Canadian family had a multipoint lod score of 2.97 and shared the haplotype of the original French-Canadian families. Identification of the various forms of familial partial epilepsy is challenging, particularly in small families, in which insufficient individuals exist to identify a specific pattern...Continue Reading

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Citations

May 24, 2012·Current Neurology and Neuroscience Reports·Roberto MichelucciCarlo Nobile
Mar 7, 2008·European Journal of Human Genetics : EJHG·Helen M KnightMuhammad Ayub
Apr 2, 2013·Nature Genetics·Leanne M DibbensIngrid E Scheffer
Apr 2, 2013·Nature Genetics·Saeko IshidaStéphanie Baulac
Jun 5, 2010·Brain : a Journal of Neurology·Dalia KasperaviciūteSanjay M Sisodiya
Sep 25, 2010·Brain : a Journal of Neurology·Douglas E CromptonSamuel F Berkovic
Dec 20, 2005·Epilepsia·Frederick AndermannEva Andermann
Apr 30, 2009·Epilepsia·Dora AngelichevaJosemir W Sander
Mar 2, 2013·Current Opinion in Neurology·Massimo Pandolfo
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Nov 2, 2013·Neurologic Clinics·Rohini CoorgMichael Wong
Oct 31, 2015·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Maria Antonella BurzaStefano Romeo
Nov 23, 2011·Brain & Development·Su-Kyeong Hwang, Shinichi Hirose
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Oct 28, 2016·Expert Review of Neurotherapeutics·Philipp Sebastian ReifKarl Martin Klein
Apr 11, 2007·Arquivos de neuro-psiquiatria·Cláudia Vianna Maurer-MorelliIscia Lopes-Cendes

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