Stepwise Developmental Regression Associated With Novel CACNA1A Mutation - 07/08/11
Doi : 10.1016/j.pediatrneurol.2008.07.030
Andrea A. Guerin, MD 
, Annette Feigenbaum, MD , Elizabeth J. Donner, MD †, Grace Yoon, MD †, ⁎ 
Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada
, Annette Feigenbaum, MD , Elizabeth J. Donner, MD †, Grace Yoon, MD †, ⁎ Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada † Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada
Communications should be addressed to: Dr. Yoon; Division of Neurology and Division of Clinical and Metabolic Genetics; Department of Pediatrics, Hospital for Sick Children; University of Toronto; 555 University Ave.; Toronto, Ontario M5G 1X8, Canada.Abstract |
Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. We report on an 11-year-old girl with episodes of seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy. Sequence analysis of the CACNA1A gene revealed a de novo Ile712Val sequence variant, which was not reported previously.
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© 2008
Elsevier Inc. Tous droits réservés.
Vol 39 - N° 5
P. 363-364 - novembre 2008 Retour au numéro
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