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Early Infantile Epileptic Encephalopathy 42 (EIEE42)

Disease ID:1280
Name:Early Infantile Epileptic Encephalopathy 42 (EIEE42)
Associated with:1 target
Database Links
OMIM: 617106


References:  1-3


No ligand related data available for Early Infantile Epileptic Encephalopathy 42 (EIEE42)


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

2. Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T et al.. (2013) De novo mutations in epileptic encephalopathies. Nature, 501 (7466): 217-21. [PMID:23934111]

3. Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D et al.. (2019) Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genet Med, 21 (3): 553-563. [PMID:29997391]