Genetic heterogeneity in infantile spasms

Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence i...

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Xehetasun bibliografikoak
Argitaratua izan da:Epilepsy Res
Egile Nagusiak: Muir, Alison M., Myers, Candace T., Nguyen, Nancy T., Saykally, Julia, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Hoffman, Dorota, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Møller, Rikke S., Serratosa, Jose, Štěrbová, Katalin, Striano, Pasquale, von Spiczak, Sarah, Weckhuysen, Sarah, Mefford, Heather C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2019
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6814289/
https://ncbi.nlm.nih.gov/pubmed/31394400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.eplepsyres.2019.106181
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