Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

Author:

Haug Karsten,Warnstedt Maike,Alekov Alexi K.,Sander Thomas,Ramírez Alfredo,Poser Barbara,Maljevic Snezana,Hebeisen Simon,Kubisch Christian,Rebstock Johannes,Horvath Steve,Hallmann Kerstin,Dullinger Joern S.,Rau Birgit,Haverkamp Fritz,Beyenburg Stefan,Schulz Herbert,Janz Dieter,Giese Bernd,Müller-Newen Gerhard,Propping Peter,Elger Christian E.,Fahlke Christoph,Lerche Holger,Heils Armin

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference30 articles.

1. Steinlein, O.K. & Noebels J.L. Ion channels and epilepsy in man and mouse. Curr. Opin. Genet. Dev. 10, 286–291 (2000).

2. Berkovic, S.F. & Scheffer, I.E. Genetics of the epilepsies. Epilepsia 42, Suppl 5 16–23 (2001).

3. Lerche, H., Jurkat-Rott, K. & Lehmann-Horn, F. Ion channels and epilepsy. Am. J. Med. Genet. 106, 146–159 (2001).

4. Baulac, S. et al. First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nat. Genet. 28, 46–48 (2001).

5. Wallace, R.H. et al. Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28, 49–52 (2001).

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