GABRA1
Parent support group: https://www.facebook.com/groups/192847388581752
Website: https://www.gabra1village.org/
Twitter: https://twitter.com/GABRA1Village
Fundraising: https://give.rarevillage.org/campaign/scarletts-village/c353196
Symptoms which have been reported by some individuals or publications associated with this gene (some individuals may experience more than one, or none of these symptoms):
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Epilepsy
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Developmental delay
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Intellectual disability
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Dravet syndrome
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West syndrome
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Lennox-Gastaut syndrome
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Autism
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Hypotonia
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Choreoathetoid movement
Patient-derived iPS cell lines (in progress):
GABRA1: c.869_888del, p.Val290fs (plus isogenic control)
Publications:
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants
Quantitative interactome proteomics identifies a proteostasis network for GABAA receptors
Pharmacological activation of ATF6 remodels the proteostasis network to rescue pathogenic GABAA receptors
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies
Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy
Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
GABAA Receptor Variants in Epilepsy
Clinical phenotypes of epilepsy associated with GABRA1 gene variants
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy
GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients
SAHA enhances Proteostasis of epilepsy-associated α1(A322D)β2γ2 GABA(A) receptors
Proteostasis regulators restore function of epilepsy-associated GABAA receptors
Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human - PubMed (nih.gov)