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| Genetic Epilepsy v0.983 | GAD1 | Zornitza Stark Phenotypes for gene: GAD1 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 89, MIM# 619124 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.982 | GAD1 | Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Developmental and epileptic encephalopathy 89, MIM# 619124 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.678 | GAD1 | Zornitza Stark Marked gene: GAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.678 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.678 | GAD1 | Zornitza Stark Classified gene: GAD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.678 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.677 | GAD1 |
Zornitza Stark gene: GAD1 was added gene: GAD1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 32282878 Phenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy Review for gene: GAD1 was set to GREEN Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age. Sources: Literature |
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