06
Jul
5q14.3 deletions, the ADGRV1 gene and epilepsy
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Chromosome 5q14.3 deletions – deletions within a region of the long arm of chromosome 5 – cause intellectual disability, epilepsy, dysmorphisms (abnormal differences in body structure), structural brain abnormalities, and hypotonia (low muscle tone.) Seizure types found in 5q14.3 deletions typically include myoclonic seizures, infantile onset of febrile seizures, and... Read More
