Citations for
1CACNA1A, EIEE41, EIEE42, EIEE43, GABRB3, SLC1A2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Epi4K Consortium.
Am J Hum Genet 99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28. 2016
2CACNA1A, EIEE42
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson K, ’iglane-Shlik E, Talvik I, Vaher U, ’unapuu A, Ennok M, Teek R, Pajusalu S, Murumets ‹, Tomberg T, Puusepp S, Piirsoo A, Reimand T, ’unap K.
Am J Med Genet A. Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2 2016
3CACNA1A, EIEE42
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
Damaj L, Lupien-Meilleur A, Lortie A, Riou …, Ospina LH, Gagnon L, Vanasse C, Rossignol E.
Eur J Hum Genet. Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4. 2015
4CACNA1A, EIEE42
De novo mutations in epileptic encephalopathies.
Epi4K Consortium.
Nature 501(7466):217-21. doi: 10.1038/nature12439. 2013