Neurology. 2000 Oct 10;55(7):1040-2.

CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.

Vahedi K, Denier C, Ducros A, Bousson V, Levy C, Chabriat H, Haguenau M, Tournier-Lasserve E, Bousser MG.

Source

Service de Neurologie, Hôpital Lariboisière, Paris, France. vahedi@ccr.jussieu.fr

Abstract

Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.

PMID:: 11061267; [PubMed - indexed for MEDLINE]

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Review Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. [Arch Neurol. 2002]
Review Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.
Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R, Ferrari M. Arch Neurol. 2002 Jun; 59(6):1016-8.
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. [N Engl J Med. 2001]
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Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E. N Engl J Med. 2001 Jul 5; 345(1):17-24.
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. [Ann Neurol. 2001]
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, et al. Ann Neurol. 2001 Jun; 49(6):753-60.
[Familial hemiplegic migraine resulting in recurrent coma]. [Ned Tijdschr Geneeskd. 2008]
[Familial hemiplegic migraine resulting in recurrent coma].
Lee H, Aramideh M, Ginjaar HB. Ned Tijdschr Geneeskd. 2008 Feb 16; 152(7):393-6.
Review Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation. [J Neurol Neurosurg Psychiatry....]
Review Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
Stam AH, Luijckx GJ, Poll-Thé BT, Ginjaar IB, Frants RR, Haan J, Ferrari MD, Terwindt GM, van den Maagdenberg AM. J Neurol Neurosurg Psychiatry. 2009 Oct; 80(10):1125-9. Epub 2009 Jun 10.

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Cited by 3 PubMed Central articles

Sporadic hemiplegic migraine with seizures and transient MRI abnormalities. [Case Rep Neurol Med. 2011]
Sporadic hemiplegic migraine with seizures and transient MRI abnormalities.
Bhatia H, Babtain F. Case Rep Neurol Med. 2011; 2011:258372. Epub 2011 Sep 25.
Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice. [J Neurosci. 2011]
Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice.
Eikermann-Haerter K, Yuzawa I, Qin T, Wang Y, Baek K, Kim YR, Hoffmann U, Dilekoz E, Waeber C, Ferrari MD, et al. J Neurosci. 2011 Apr 13; 31(15):5755-63.
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. [J Clin Invest. 2009]
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.
Eikermann-Haerter K, Dileköz E, Kudo C, Savitz SI, Waeber C, Baum MJ, Ferrari MD, van den Maagdenberg AM, Moskowitz MA, Ayata C. J Clin Invest. 2009 Jan; 119(1):99-109. Epub 2008 Dec 22.

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