Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

[1] Ophoff R.A., Terwindt G.M., Vergouwe M.N., Et al., Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca²⁺ channel gene CACNL1A4, Cell, 87, pp. 543-552, (1996)

[2] De Fusco M., Marconi R., Silvestri L., Et al., Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2, Nat Genet, 33, pp. 192-196, (2003)

[3] Vanmolkot K., Kors E., Hottenga J., Et al., Novel mutations in the Na⁺,K⁺-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions, Ann Neurol, 54, pp. 360-366, (2003)

[4] Pietrobon D., Calcium channels and channelopathies of the central nervous system, Mol Neurobiol, 25, pp. 31-50, (2002)

[5] Chioza B., Wilkie H., Nashef L., Et al., Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy, Neurology, 56, pp. 1245-1246, (2001)

[6] Jouvenceau A., Eunson L.H., Spauschus A., Et al., Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel, Lancet, 358, pp. 801-807, (2001)

[7] Ducros A., Denier C., Joutel A., Et al., The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel, N Engl J Med, 345, pp. 17-24, (2001)

[1] Ophoff R.A., Terwindt G.M., Vergouwe M.N., Et al., Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca²⁺ channel gene CACNL1A4, Cell, 87, pp. 543-552, (1996)

[2] De Fusco M., Marconi R., Silvestri L., Et al., Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2, Nat Genet, 33, pp. 192-196, (2003)

[3] Vanmolkot K., Kors E., Hottenga J., Et al., Novel mutations in the Na⁺,K⁺-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions, Ann Neurol, 54, pp. 360-366, (2003)

[4] Pietrobon D., Calcium channels and channelopathies of the central nervous system, Mol Neurobiol, 25, pp. 31-50, (2002)

[5] Chioza B., Wilkie H., Nashef L., Et al., Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy, Neurology, 56, pp. 1245-1246, (2001)

[6] Jouvenceau A., Eunson L.H., Spauschus A., Et al., Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel, Lancet, 358, pp. 801-807, (2001)

[7] Ducros A., Denier C., Joutel A., Et al., The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel, N Engl J Med, 345, pp. 17-24, (2001)