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- W2948620521 abstract "Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess whether pathogenic variants in KCNQ3 cause NDD and to elucidate the associated phenotype and molecular mechanisms.Patients with NDD and KCNQ3 DNVs were identified through an international collaboration. Phenotypes were characterized by clinical assessment, review of charts, electroencephalographic (EEG) recordings, and parental interview. Functional consequences of variants were analyzed in vitro by patch-clamp recording.Eleven patients were assessed. They had recurrent heterozygous DNVs in KCNQ3 affecting residues R230 (R230C, R230H, R230S) and R227 (R227Q). All patients exhibited global developmental delay within the first 2 years of life. Most (8/11, 73%) were nonverbal or had a few words only. All patients had autistic features, and autism spectrum disorder (ASD) was diagnosed in 5 of 11 (45%). EEGs performed before 10 years of age revealed frequent sleep-activated multifocal epileptiform discharges in 8 of 11 (73%). For 6 of 9 (67%) recorded between 1.5 and 6 years of age, spikes became near-continuous during sleep. Interestingly, most patients (9/11, 82%) did not have seizures, and no patient had seizures in the neonatal period. Voltage-clamp recordings of the mutant KCNQ3 channels revealed gain-of-function (GoF) effects.Specific GoF variants in KCNQ3 cause NDD, ASD, and abundant sleep-activated spikes. This new phenotype contrasts both with self-limited neonatal epilepsy due to KCNQ3 partial loss of function, and with the neonatal or infantile onset epileptic encephalopathies due to KCNQ2 GoF. ANN NEUROL 2019;86:181-192." @default.
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- W2948620521 date "2019-06-26" @default.
- W2948620521 modified "2023-10-18" @default.
- W2948620521 title "Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants" @default.
- W2948620521 cites W1490584888 @default.
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- W2948620521 cites W1892287811 @default.
- W2948620521 cites W1970279611 @default.
- W2948620521 cites W1978701742 @default.
- W2948620521 cites W1983519301 @default.
- W2948620521 cites W1997537641 @default.
- W2948620521 cites W2010817599 @default.
- W2948620521 cites W2059145105 @default.
- W2948620521 cites W2062463079 @default.
- W2948620521 cites W2065116169 @default.
- W2948620521 cites W2070032514 @default.
- W2948620521 cites W2071335594 @default.
- W2948620521 cites W2073985563 @default.
- W2948620521 cites W2101309147 @default.
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- W2948620521 cites W2160995259 @default.
- W2948620521 cites W2169876039 @default.
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- W2948620521 cites W2298012381 @default.
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- W2948620521 cites W2581649032 @default.
- W2948620521 cites W2583480219 @default.
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- W2948620521 doi "https://doi.org/10.1002/ana.25522" @default.
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