ArticleBrain : a journal of neurology2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 31 citations in OpenAlex.
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- Targeting neuroinflammatory pathways in epilepsy: a combined network-pharmacology and in vivo study of dapagliflozin and ticagrelor.Inflammopharmacology · 2025Article
- Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Review
- Decreased GABA levels during development result in increased connectivity in the larval zebrafish tectum.bioRxiv : the preprint server for biology · 2024Article
- The complex molecular epileptogenesis landscape of glioblastoma.Cell reports. Medicine · 2024Article
- Identification of the Shared Gene Signatures Between Alzheimer's Disease and Diabetes-Associated Cognitive Dysfunction by Bioinformatics Analysis Combined with Biological Experiment.Journal of Alzheimer's disease : JAD · 2024Article
- Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.Molecular genetics & genomic medicine · 2023Article
- Developmental and epileptic encephalopathy 89: A novel bi-allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile.Epilepsia open · 2023Article
- Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice.iScience · 2023Article
- A single-nucleus transcriptomic atlas of the dog hippocampus reveals the potential relationship between specific cell types and domestication.National science review · 2022Article
- Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Brain : a journal of neurology · 2022Article
- Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.BMC medical genomics · 2022Article
- Genomics in Egypt: Current Status and Future Aspects.Frontiers in genetics · 2022Review
- Review
- Genetic deletion of the 67-kDa isoform of glutamate decarboxylase alters conditioned fear behavior in rats.FEBS open bio · 2021Article
- Insights: fear of GAD.FEBS open bio · 2021Article
- GABAergic Gene Regulatory Elements Used in Adeno-Associated Viral Vectors.Frontiers in neurology · 2021Review
- Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant inBrain communications · 2021Article
- Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.Brain : a journal of neurology · 2020Article
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31 authors at 16 institutions in 12 countries.
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Abstract
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, 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 patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1-/- mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.
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