Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

E. Stogmann; P. Lichtner; C. Baumgartner; M. Schmied; C. Hotzy; F. Asmus; F. Leutmezer; S. Bonelli; E. Assem-Hilger; K. Vass; K. Hatala; T. M. Strom; T. Meitinger; F. Zimprich; A. Zimprich

doi:10.1007/s10048-006-0057-x

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

E. Stogmann, P. Lichtner, C. Baumgartner, M. Schmied, C. Hotzy, F. Asmus, F. Leutmezer, S. Bonelli, E. Assem-Hilger, K. Vass, K. Hatala, T. M. Strom, T. Meitinger, F. Zimprich, A. Zimprich

Medicine and Health

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Abstract

Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.

Original language	English
Pages (from-to)	265-268
Number of pages	4
Journal	Neurogenetics
Volume	7
Issue number	4
DOIs	https://doi.org/10.1007/s10048-006-0057-x
State	Published - Nov 2006

Keywords

CLCN2
Idiopathic generalized epilepsy

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Stogmann, E., Lichtner, P., Baumgartner, C., Schmied, M., Hotzy, C., Asmus, F., Leutmezer, F., Bonelli, S., Assem-Hilger, E., Vass, K., Hatala, K., Strom, T. M., Meitinger, T., Zimprich, F., & Zimprich, A. (2006). Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. Neurogenetics, 7(4), 265-268. https://doi.org/10.1007/s10048-006-0057-x

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title = "Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes",

abstract = "Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.",

keywords = "CLCN2, Idiopathic generalized epilepsy",

author = "E. Stogmann and P. Lichtner and C. Baumgartner and M. Schmied and C. Hotzy and F. Asmus and F. Leutmezer and S. Bonelli and E. Assem-Hilger and K. Vass and K. Hatala and Strom, {T. M.} and T. Meitinger and F. Zimprich and A. Zimprich",

year = "2006",

month = nov,

doi = "10.1007/s10048-006-0057-x",

language = "English",

volume = "7",

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journal = "Neurogenetics",

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Stogmann, E, Lichtner, P, Baumgartner, C, Schmied, M, Hotzy, C, Asmus, F, Leutmezer, F, Bonelli, S, Assem-Hilger, E, Vass, K, Hatala, K, Strom, TM, Meitinger, T, Zimprich, F & Zimprich, A 2006, 'Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes', Neurogenetics, vol. 7, no. 4, pp. 265-268. https://doi.org/10.1007/s10048-006-0057-x

TY - JOUR

T1 - Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

AU - Stogmann, E.

AU - Lichtner, P.

AU - Baumgartner, C.

AU - Schmied, M.

AU - Hotzy, C.

AU - Asmus, F.

AU - Leutmezer, F.

AU - Bonelli, S.

AU - Assem-Hilger, E.

AU - Vass, K.

AU - Hatala, K.

AU - Strom, T. M.

AU - Meitinger, T.

AU - Zimprich, F.

AU - Zimprich, A.

PY - 2006/11

Y1 - 2006/11

N2 - Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.

AB - Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.

KW - CLCN2

KW - Idiopathic generalized epilepsy

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U2 - 10.1007/s10048-006-0057-x

DO - 10.1007/s10048-006-0057-x

M3 - Article

C2 - 16932951

AN - SCOPUS:33750080737

SN - 1364-6745

VL - 7

SP - 265

EP - 268

JO - Neurogenetics

JF - Neurogenetics

IS - 4

ER -

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

Abstract

Keywords

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