SCN1B‐linked early infantile developmental and epileptic encephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50921
Abstract: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage‐gated sodium channel (VGSC) β1 and β1B non‐pore‐forming subunits. read more here.
Keywords: epileptic encephalopathy; linked early; scn1b linked; early infantile ... See more keywords
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations
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DOI: 10.1002/mgg3.1874
Abstract: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems. read more here.
Keywords: infantile developmental; causes infantile; mutation causes; dync1h1 mutation ... See more keywords