biostudies-literatureBirca VResearch Institute of the McGill University Health CentreFonds de Recherche du Québec - Santé2329048X221093173https://www.ebi.ac.uk/biostudies/studies/S-EPMC9036355biostudies-literatureUnknown9Background: Distal 7q11.23 deletions are variably associated with epilepsy, intellectual disability and neurobehavioural abnormalities. The relative importance of different genes in this region in contributing to different phenotypes is not clear, though HIP1 and YWHAG are both thought to play important roles. Patients and Methods: We performed thorough phenotyping on members of a family in which multiple members carried a relatively small 0.8 Mb distal 7q11.23 deletion, affecting 17 genes. Results: Two brothers and a half-brother had all inherited the 7q11.23 deletion from their mother. The eldest two both had global developmental impairment and genetic generalized epilepsy, involving absence, myoclonic or myoclonic-atonic seizures. There was no history Child neurology openGenetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion.PMC9036355295639282228Birca VMyers KAfalseGenetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion.Background: Distal 7q11.23 deletions are variably associated with epilepsy, intellectual disability and neurobehavioural abnormalities. The relative importance of different genes in this region in contributing to different phenotypes is not clear, though HIP1 and YWHAG are both thought to play important roles. Patients and Methods: We performed thorough phenotyping on members of a family in which multiple members carried a relatively small 0.8 Mb distal 7q11.23 deletion, affecting 17 genes. Results: Two brothers and a half-brother had all inherited the 7q11.23 deletion from their mother. The eldest two both had global developmental impairment and genetic generalized epilepsy, involving absence, myoclonic or myoclonic-atonic seizures. There was no history 2022-01-01T00:00:00Z2022 Jan-Dec2026-05-30T15:47:56.797Z2025-04-04T10:02:10.009ZS-EPMC90363553548115510.1177/2329048X221093173