EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
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DOI: 10.1002/ana.25973
Abstract: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. read more here.
Keywords: eif2ak2 missense; early onset; generalized dystonia; onset generalized ... See more keywords
New gene implicated in early‐onset generalized dystonia: Lysine‐specific methyltransferase 2B (KMT2B)
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DOI: 10.1002/mds.26928
Abstract: Although several genes have been implicated in the pathogenesis of generalized dystonia, most cases remain without an identifiable cause. The incomplete knowledge of the pathophysiology of dystonia is a major obstacle to developing treatments targeting… read more here.
Keywords: early onset; onset generalized; dystonia; gene ... See more keywords
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
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DOI: 10.1016/j.eplepsyres.2018.01.014
Abstract: Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment, hypotonia and characteristic facial features.… read more here.
Keywords: onset generalized; bainbridge ropers; generalized epilepsy; ropers syndrome ... See more keywords
A Novel Mutation in KMT2B Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India
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DOI: 10.4103/0028-3886.329561
Abstract: Mutations in KMT2B (lysine-specific methyltransferase 2B) gene, which is primarily involved in methylation of Histone3lys4 (H3K4), has been recently described to cause early-onset generalized progressive dystonia (DYT28) by two independent researchers. Unlike other primary dystonias,… read more here.
Keywords: onset generalized; kmt2b gene; dystonia; india novel ... See more keywords