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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Autosomal recessive cortical myoclonic tremor and epilepsy: Association with a mutation in the potassium channel associated gene CNTN2
Brain, Volume 136, No. 4, Year 2013
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Description
We characterize a consanguineous Egyptian family with an autosomal recessively inherited familial cortical myoclonic tremor and epilepsy. We used multipoint linkage analysis to map the causative mutation to a 12.7 megabase interval within 1q31.3-q32.2 with a log of odds score of 3.6. For further investigation of the linked region in an efficient and unbiased manner, we performed exome sequencing. Within the suspected region we identified a homozygous single base pair deletion (c.503-503delG) leading to a frameshift in the coding region of the sixth exon of CNTN2 alias TAG-1 (p.Trp168fs), which segregated in the respective family. Many studies point towards an important role of the CNTN2 product contactin 2 in neuronal excitability. Contactin 2, a glycosylphosphatidylinositol-anchored neuronal membrane protein, and another transmembrane protein called contactin associated protein-like 2 (CNTNAP2 alias CASPR2) are together necessary to maintain voltage-gated potassium channels at the juxtaparanodal region. CNTN2 knockout mice were previously reported to suffer from spontaneous seizures and mutations in the CNTNAP2 gene have been described to cause epilepsy in humans. To further delineate the role of CNTN2 in patients with epilepsy, we sequenced the coding exons in 189 Caucasian patients with epilepsy. No recessive mutation was detected and heterozygote carriers of rare CNTN2 variants do not seem to be predisposed to epilepsy. Given the severity of the mutation and the proposed function of the gene, we consider this mutation as the most likely cause for cortical myoclonic tremor and epilepsy in this family. © 2013 The Author (2013).
Authors & Co-Authors
Stögmann, Elisabeth
Austria, Vienna
Medizinische Universität Wien
Reinthaler, Eva Maria
Austria, Vienna
Medizinische Universität Wien
El Tawil, S.
Egypt, Cairo
Ain Shams University
El-Etribi, M. A.
Egypt, Cairo
Ain Shams University
Hemeda, Mahmoud
Egypt, Cairo
Ain Shams University
El Nahas, Nevine
Egypt, Cairo
Ain Shams University
Gaber, Ahmed Abdelmonem
Egypt, Cairo
Ain Shams University
Fouad, Amal
Egypt, Cairo
Ain Shams University
Edris, S. A.
Egypt, Cairo
Ain Shams University
Benet-Pages, Anna
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Eck, Sebastian H.
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Pataraia, Ekaterina
Austria, Vienna
Medizinische Universität Wien
Mei, Davide
Italy, Florence
Università Degli Studi Di Firenze
Brice, Alexis
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Institut du Cerveau et de la Moelle Épinière
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Lesage, Suzanne
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Institut du Cerveau et de la Moelle Épinière
Guerrini, Renzo
Italy, Florence
Università Degli Studi Di Firenze
Zimprich, Fritz
Austria, Vienna
Medizinische Universität Wien
Strom, Tim Matthias
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Zimprich, Alexander
Austria, Vienna
Medizinische Universität Wien
Statistics
Citations: 65
Authors: 19
Affiliations: 8
Identifiers
Doi:
10.1093/brain/awt068
e-ISSN:
14602156
Research Areas
Cancer
Genetics And Genomics