CACNA1A

Publications

Ophoff RA et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87(3):543-52.  PMID: 8898206.

Zhuchenko O et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997;15(1):62-9.  PMID: 8988170.

Ducros A et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med. 2001;345(1):17-24.  PMID: 11439943.

Kors EE et al. 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;49(6):753-60.   PMID 11409427.

Van den Maagdenberg AM et al. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron. 2004;41(5):701-10.  PMID: 15003170.

Jen JC et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007;130(Pt 10):2484-93.  PMID: 17575281.

De Vries B et al. Molecular genetics of migraine. Hum Genet. 2009;126(1):115-32.  PMID: 19455354.

Pietrobon D. CaV2.1 channelopathies. Pflugers Arch. 2010;460(2):375-93.  PMID: 20204399.

Epi4K Consortium. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet. 2016;99(2):287-98.  PMID: 27476654.

Chan KY et al. Trigeminovascular calcitonin gene-related peptide function in Cacna1a R192Q-mutated knock-in mice. J Cereb Blood Flow Metab. 2019;39(4):718-729.  PMID: 28792272.