Large-scale calcium channel gene rearrangements in Episodic Ataxia and Hemiplegic Migraine: Implications for diagnostic testing
Résumé
Episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are autosomal dominant disorders characterized by paroxysmal ataxia and migraine respectively. Point mutations in , which encodes the neuronal P/Q-type calcium channel, have been detected in many cases of EA2 and FHM1. The genetic basis of typical cases without point mutations is not fully known. Standard DNA sequencing methods may miss large scale genetic rearrangements such as deletions and duplications. We investigated whether large-scale genetic rearrangements in can cause EA2 and FHM1.
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