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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Brain(2020)10.1093/brain/awaa085Source: DataRank Database

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy is a research paper published in Brain (2020). On theSindex it has a DataRank of 0. It has been cited 32 times.

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Open Access32 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (10 grants)OA: hybridTopics (73)IDs (PubMed)SDGs (1)

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Authors (45)

Felicitas Becker,Heba Morsy ORCID,Miriam Schmidts ORCID,Katia Hardies,Beyhan Tüysüz ORCID

Live enrichment

PubMed:32282878

European Union’s Seventh Framework Programme

Grant: 608473

BOF-University of Antwerp

Grant: FFB180053

FWO-FKM

Grant: 1861419N

Starting Grant TREAT Cilia

Grant: 716344

Novel Therapeutic Avenues for dynein-related Ciliopathies

NHLBI

Grant: UM1HG006504

NHLBI

Grant: U24 HG008956

Swedish Research Council

Grant: unidentified

unidentified

National Institutes of Health

Grant: 5U24HG008956-02

NHGRI Genome Sequencing Program Coordinating Center

National Institutes of Health

Grant: 5UM1HG006504-07

Yale Center for Mendelian Genomics

NCATS NIH HHS

Grant: UL1 TR001863

hybridLicense: cc-by

publisherhttps://academic.oup.com/brain/article-pdf/143/5/1447/33456875/awaa085.pdf

publisherhttp://academic.oup.com/brain/article-pdf/143/5/1447/33456875/awaa085.pdf

repositoryhttp://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-18483

repositoryhttps://academic.oup.com/brain/article/doi/10.1093/brain/awaa085/5819590

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7241960

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciencesAbnormalities, MultipleEpileptic SyndromesFemaleGlutamate DecarboxylaseHumansInfant, NewbornMaleMutationPedigree

MeSH Terms

Abnormalities, MultipleEpileptic SyndromesFemaleGlutamate DecarboxylaseHumansInfant, NewbornMaleMutationPedigree

Keywords

MaleHerzrhythmusstörungsuppression-burstMolecular Mechanisms of Synaptic Plasticity and Neurological DisordersGlobal developmental delayEncephalopathyPediatricsBiochemistryGeneMedical Genetics and GenomicsInternal medicinecleft palatePsychiatryHypsarrhythmiaGAD1Glutamate DecarboxylaseLife SciencesRadboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life SciencesMedicinsk genetik och genomikPedigreeFunctions and Regulation of RNA Editing by ADARsPhenotypeMolecular Basis of Rett Syndrome and Related DisordersMedicineFemaleMedical GeneticsNeurovetenskaper610Radboud University Medical CenterarthrogryposisCellular and Molecular NeuroscienceBiochemistry, Genetics and Molecular BiologyGeneticsHumansAbnormalities, MultipleMolecular BiologyBiologyMedicinsk genetikomphaloceleEpilepsyNeurosciencesInfant, NewbornBrain DevelopmentOriginal ArticlesGaumenspalteEnzymeFOS: Biological sciencesWest SyndromeMutationHuman medicineEpileptic SyndromesNeuroscience

Sustainable Development Goals

SDG 3: 3. Good health