Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
نویسندگان
چکیده
منابع مشابه
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory...
متن کاملGenomics, intellectual disability, and autism.
From the Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle (H.C.M.); and the Departments of Integrative Systems Biology and Pediatrics, Children’s National Medical Center, and George Washington University School of Medicine (M.L.B., E.P.H.) — both in Washington, DC. Address reprint requests to Dr. Mefford at the Department of Pediatrics, 1959 NE Pacific S...
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Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contras...
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The muscarinic-regulated potassium current (M-current), formed by the heteromeric assembly of subunits encoded by the KCNQ2 and KCNQ3 genes, is a primary regulator of neuronal excitability; this regulation is accomplished by impeding repetitive firing and causing spike-frequency adaptation. Mutations in KCNQ2 or KCNQ3 cause benign familial neonatal convulsions (BFNC), a rare autosomal-dominant ...
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Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings with mild ID and epilepsy in the CADPS2 gene, encoding for a synaptic protein involved in neurotrophin release and interaction with dopamine receptor type 2 (...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2019
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.25522