CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms-Reference-Cited by-同舟云学术

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CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

Published:2015-03-04 Issue:11 Volume:23 Page:1505-1512
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Damaj Lena,Lupien-Meilleur Alexis,Lortie Anne,Riou Émilie,Ospina Luis H,Gagnon Louise,Vanasse Catherine,Rossignol Elsa

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201521.pdf

Reference86 articles.

1. Ophoff RA, Terwindt GM, Vergouwe MN et al: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996; 87: 543–552.

2. Ducros A, Denier C, Joutel A et al: Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet 1999; 64: 89–98.

3. Zhuchenko O, Bailey J, Bonnen P et al: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62–69.

4. Alonso I, Barros J, Tuna A et al: Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol 2003; 60: 610–614.

5. Mantuano E, Romano S, Veneziano L et al: Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. J Neurol Sci 2010; 291: 30–36.

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