BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy-Reference-Cited by-同舟云学术

BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Published:2016-06-02 Issue:8 Volume:170 Page:2173-2176
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Reinson Karit¹²,Õiglane-Shlik Eve²³,Talvik Inga²³,Vaher Ulvi³,Õunapuu Anne⁴,Ennok Margus⁴⁵,Teek Rita¹²,Pajusalu Sander¹⁶,Murumets Ülle¹,Tomberg Tiiu⁷,Puusepp Sanna¹,Piirsoo Andres⁶,Reimand Tiia¹²⁶,Õunap Katrin¹²

Affiliation:

1. Department of Genetics; United Laboratories; Tartu University Hospital; Tartu Estonia

2. Department of Paediatrics; University of Tartu; Tartu Estonia

3. Children's Clinic; Tartu University Hospital; Tartu Estonia

4. Neurology Clinic; Tartu University Hospital; Tartu Estonia

5. Department of Neurology and Neurosurgery; University of Tartu; Tartu Estonia

6. Institute of Biomedicine and Translational Medicine; Department of Biomedicine; University of Tartu; Tartu Estonia

7. Radiology Clinic; Tartu University Hospital; Tartu Estonia

Funder

Eesti Teadusagentuur

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

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3. CACNA1A haploinsufficiency causes cognitive impairment, autism, and epileptic encephalopathy with mild cerebellar symptoms;Damaj;Eur J Hum Genet,2015

4. Hemiplegic migraine-downstream of a single-base change;Hoffman;N Engl J Med,2001

5. Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine;Kinder;Eur J Paediatr Neurol,2015

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