Seizure-like behavior and hyperactivity in napb knockout zebrafish as a model for autism and epilepsy
Sign Up to like & getrecommendations! Published in 2025 at "Scientific Reports"
DOI: 10.1038/s41598-025-96862-2
Abstract: We identified N-ethylmaleimide-sensitive factor attachment protein beta (NAPB) as a potential risk gene for autism and epilepsy. Notably, Qatari monozygotic triplets with loss of function mutations in NAPB exhibit early onset epileptic encephalopathy and varying… read more here.
Keywords: zebrafish model; napb; autism epilepsy; model ... See more keywords
BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000003460
Abstract: Introduction: Mutations in the branched-chain keto-acid dehydrogenase kinase gene (BCKDK), leading to low plasma branched-chain amino acids (BCAAs) levels, have been reported as a contributor to comorbid intellectual disability, autism, epilepsy, and neurodevelopmental delay (NDD).… read more here.
Keywords: autism epilepsy; case series; autism; neurodevelopmental delay ... See more keywords
Autism with Epilepsy: A Neuropsychopharmacology Update
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DOI: 10.3390/genes13101821
Abstract: The association between autism spectrum disorders (ASD) and epilepsy has been extensively documented, and the estimated prevalence varies depending upon the selected population and the clinical characteristics. Currently, there are a lack of studies assessing… read more here.
Keywords: autism; epilepsy neuropsychopharmacology; neuropsychopharmacology update; autism epilepsy ... See more keywords
Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23169392
Abstract: Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in repetitive or insufficiently mapped regions of the genome. In such cases, long-range information is… read more here.
Keywords: autism epilepsy; translocation; epilepsy osteoporosis;