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Mutations in SHANK3 and large duplications of the region spanning SHANK3 both cause a spectrum of neuropsychiatric disorders, indicating that proper SHANK3 dosage is critical for normal brain function. However, SHANK3 overexpression per se has not been established as a cause of human disorders because 22q13 duplications involve several genes. Here we report(More)
Genes encoding proteins critical for intracellular vesicular transport are an emerging area of importance for neurologists. In particular, proteins that create and maintain the correct compartmental pH, such as the endosomal Na(+)/H(+) exchangers (NHEs), have been implicated in a wide range of human diseases, including cardiovascular, inflammatory bowel,(More)
Sleep deprivation can impair human health and performance. Habitual total sleep time and homeostatic sleep response to sleep deprivation are quantitative traits in humans. Genetic loci for these traits have been identified in model organisms, but none of these potential animal models have a corresponding human genotype and phenotype. We have identified a(More)
OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included(More)
5 AU040829 RICH2 expressed sequence AU040829 o o o 6 Abcb5 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 o 7 Abcd4 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 o 8 Abcf1 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 o 9 Abi1 ABI1 abl-interactor 1 o o o 10 Abi2 ABI2 abl-interactor 2 o o 11 Acat1 ACAT1 acetyl-Coenzyme A(More)
IMPORTANCE Isolated sulfite oxidase deficiency (ISOD) causes severe intellectual disability, epilepsy, and shortened life expectancy. Intractable seizures are invariable in children with ISOD; however, to our knowledge, infantile spasms with a corresponding hypsarrhythmia pattern on electroencephalogram have never been reported. In addition, the(More)
OBJECTIVE The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability.(1) Individuals with loss-of-function mutations in SHANK3 have intellectual disability, autism, and variably, epilepsy.(2-5) The spectrum of seizure semiologies and electroencephalography (EEG) abnormalities has never been investigated in detail. With(More)
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