Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM12_ESM.xlsx › Sheet1
Potassium channels and autism spectrum disorder: An overview.
Cheng P et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L et al.
Human Molecular Genetics, 2019
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Monies D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Tabarki B et al.
Human Genetics, 2016
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