A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
Sign Up to like & getrecommendations! Published in 2021 at "Human Genome Variation"
DOI: 10.1038/s41439-021-00148-8
Abstract: A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations.… read more here.
Keywords: severe neurodevelopmental; zswim6 variant; patient severe; neurodevelopmental delay ... See more keywords
Interneurons exhibit attenuated ectopic action potential firing in a severe neurodevelopmental disorder.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of neurophysiology"
DOI: 10.1152/jn.00133.2025
Abstract: Dravet Syndrome (DS) is a severe neurodevelopmental disorder associated with treatment-resistant epilepsy and features of autism spectrum disorder due to loss of the voltage-gated sodium channel subunit Nav1.1. Recent work suggests that a pathogenic mechanism… read more here.
Keywords: ectopic action; disorder; neurodevelopmental disorder; severe neurodevelopmental ... See more keywords
Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy
Sign Up to like & getrecommendations! Published in 2017 at "Cytogenetic and Genome Research"
DOI: 10.1159/000471501
Abstract: Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes… read more here.
Keywords: severe neurodevelopmental; arms chromosomes; long arms; affecting long ... See more keywords