| 1 | CACNA1A, EIEE41, EIEE42, EIEE43, GABRB3, SLC1A2
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| De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
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| Epi4K Consortium.
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| Am J Hum Genet 99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28. 2016
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| 2 | CACNA1A, EIEE42
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| Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
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| Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K.
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| Am J Med Genet A. Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2 2016
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| 3 | CACNA1A, EIEE42
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| CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
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| Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E.
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| Eur J Hum Genet. Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4. 2015
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| 4 | CACNA1A, EIEE42
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| De novo mutations in epileptic encephalopathies.
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| Epi4K Consortium.
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| Nature 501(7466):217-21. doi: 10.1038/nature12439.
2013
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