CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2: Brief communications

Headache

Volumn 49, Issue 7, 2009, Pages 1042-1046

  Robbins, Matthew S ^a,b   Lipton, Richard B ^b   Laureta, Emma C ^b   Grosberg, Brian M ^b  

^a MONTEFIORE MEDICAL CENTER   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Basilar type migraine; CACNA1A gene; Episodic ataxia type 2; Nonsense mutation

Indexed keywords

ACETAZOLAMIDE; GABAPENTIN; NORTRIPTYLINE; SUMATRIPTAN; VERAPAMIL;

ADOLESCENT; ARTICLE; ATAXIA; BASILAR TYPE MIGRAINE; CACNA1A GENE; CASE REPORT; CHROMOSOME 19; CLINICAL FEATURE; CODON; DISEASE ASSOCIATION; EPISODIC ATAXIA TYPE 2; GENE; HEMIPLEGIA; HUMAN; MALE; MIGRAINE; NONSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; CALCIUM CHANNELS; CEREBELLAR ATAXIA; CODON, NONSENSE; HUMANS; MALE; MIGRAINE WITH AURA;

EID: 67651159273     PISSN: 00178748     EISSN: 15264610     Source Type: Journal    
DOI: 10.1111/j.1526-4610.2009.01464.x     Document Type: Article

References (14)

1. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW. Primary episodic ataxias: Diagnosis, pathogenesis and treatment. Brain. 2007 130 : 2484 2493.
2. Headache Classification Committee of the International Headache Society. The International Classification of Headache Disorders, 2nd edn. Cephalalgia. 2004 24 (Suppl. 1 9 160.
3. Vincent M, Hadjikhani N. The cerebellum and migraine. Headache: The Journal of Head and Face Pain. 2007 47 : 820 833.
4. Ambrosini A, D'Onofrio M, Grieco GS, et al. Familial basilar migraine associated with a new mutation in the ATP1A2 gene. Neurology. 2005 65 : 1826 1828.
5. Jen JC, Kim GW, Dudding KA, Baloh RW. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Arch Neurol. 2004 61 : 926 928.
6. Kirchmann M, Thomsen LL, Olesen J. Basilar-type migraine: Clinical, epidemiologic, and genetic features. Neurology. 2006 66 : 880 886. (Pubitemid 43739764)
7. Battistini S, Stenirri S, Piatti M, et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Neurology. 1999 53 : 38 43.
8. 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.
9. Jen JC, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004 62 : 17 22.
10. Sadleir LG, Scheffer IE. Febrile seizures. BMJ. 2007 334 : 307 311.
11. Kors EE, Melberg A, Vanmolkot KR, et al. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology. 2004 63 : 1136 1137.
12. Chioza B, Wilkie H, Nashef L, et al. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology. 2001 56 : 1245 1246.
13. Imbrici P, Jaffe SL, Eunson LH, et al. Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain. 2004 127 : 2682 2692.
14. Chan YC, Burgunder JM, Wilder-Smith E, et al. Electrographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A S218L mutation. J Clin Neurosci. 2008 15 : 891 894.