Literature DB >> 11085594

Supporting evidence of a gene for partial epilepsy on 10q.

V F Mautner1, M Lindenau, A Gottesleben, G Goetze, L Kluwe.   

Abstract

A four-generation family with nine individuals with temporal partial epilepsy was studied. Detailed epilepsy history was investigated by structured interview. All putatively affected family members underwent a standardized electroencephalographic examination. The phenotype in the family was characterized by a short acoustic aura followed by rapid secondary generalization. To examine if the trait is linked to a region on 10q (interval D10S185-D10S1671), which has been reported in two other epilepsy families with similar phenotypes, linkage analysis was performed using nine markers covering the previously reported region. A maximum two-point LOD score of 2.1 at a recombination fraction of zero was obtained. All living affected individuals shared the same haplotype, while three unaffected at-risk adults did not. This result presents supporting evidence of a gene for partial epilepsy on 10q.

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Year:  2000        PMID: 11085594     DOI: 10.1007/s100480000091

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


  8 in total

1.  A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3.

Authors:  Rinki Ratnapriya; Parthasarthy Satishchandra; S Dilip Kumar; Girish Gadre; Ramesh Reddy; Anuranjan Anand
Journal:  Hum Genet       Date:  2009-03-06       Impact factor: 4.132

2.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Authors:  Sergey Kalachikov; Oleg Evgrafov; Barbara Ross; Melodie Winawer; Christie Barker-Cummings; Filippo Martinelli Boneschi; Chang Choi; Pavel Morozov; Kamna Das; Elita Teplitskaya; Andrew Yu; Eftihia Cayanis; Graciela Penchaszadeh; Andreas H Kottmann; Timothy A Pedley; W Allen Hauser; Ruth Ottman; T Conrad Gilliam
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

3.  A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23.

Authors:  Kalpita R Karan; Parthasarthy Satishchandra; Sanjib Sinha; Anuranjan Anand
Journal:  J Genet       Date:  2018-06       Impact factor: 1.166

Review 4.  Progress in the genetics of the partial epilepsies.

Authors:  R Ottman
Journal:  Epilepsia       Date:  2001       Impact factor: 5.864

5.  Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.

Authors:  Melodie R Winawer; Filippo Martinelli Boneschi; Christie Barker-Cummings; Joseph H Lee; Jianjun Liu; Constantine Mekios; T Conrad Gilliam; Timothy A Pedley; W Allen Hauser; Ruth Ottman
Journal:  Epilepsia       Date:  2002-01       Impact factor: 5.864

6.  Genetics of temporal lobe epilepsy: a review.

Authors:  Annick Salzmann; Alain Malafosse
Journal:  Epilepsy Res Treat       Date:  2012-02-19

7.  Genetics of inherited human epilepsies.

Authors:  I Gourfinkel-An; S Baulac; A Brice; E Leguern; M Baulac
Journal:  Dialogues Clin Neurosci       Date:  2001-03       Impact factor: 5.986

Review 8.  Genetic and epigenetic mechanisms of epilepsy: a review.

Authors:  Tian Chen; Mohan Giri; Zhenyi Xia; Yadu Nanda Subedi; Yan Li
Journal:  Neuropsychiatr Dis Treat       Date:  2017-07-13       Impact factor: 2.570

  8 in total

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