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• W4376871569 abstract "KCNK18 , a potassium channel subfamily K member 18 (MIM*613655), encodes for TWIK-related spinal cord K+ channel (TRESK) and is important for maintaining neuronal excitability. Monoallelic variants in KCNK18 are known to cause autosomal dominant migraine, with or without aura, susceptibility to, 13 (MIM#613656). Recently, biallelic missense variants in KCNK18 have been reported in three individuals from a non-consanguineous family with intellectual disability, developmental delay, autism spectrum disorder (ASD), and seizure.Singleton exome sequencing was performed for the proband after detailed clinical evaluation to identify the disease-causing variants in concordance with the phenotype.We herein report an individual with intellectual disability, developmental delay, ASD, and epilepsy with febrile seizure plus with a novel homozygous stopgain variant, c.499C>T p.(Arg167Ter) in KCNK18 .This report further validates KCNK18 as a cause of autosomal recessive intellectual disability, epilepsy, and ASD." @default.
• W4376871569 created "2023-05-18" @default.
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• W4376871569 date "2023-05-05" @default.
• W4376871569 modified "2023-10-17" @default.
• W4376871569 title "Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus" @default.
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• W4376871569 doi "https://doi.org/10.1097/mcd.0000000000000463" @default.
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