De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

Platzer, K., Sticht, H., Bupp, C., Ganapathi, M., Pereira, E. M., Le Guyader, G., Bilan, F., Henderson, L. B., Lemke, J. R., Taschenberger, H., Brose, N., Abou Jamra, R., & Wojcik, S. M. (2022). De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Annals of Neurology, 92(6), 958–973. Portico. https://doi.org/10.1002/ana.26485
Authors:
Konrad Platzer
Heinrich Sticht
Caleb Bupp
Mythily Ganapathi
Elaine M Pereira
Gwenaël Le Guyader
Frederic Bilan
Lindsay B Henderson
Johannes R Lemke
Holger Taschenberger
Nils Brose
Rami Abou Jamra
Sonja M Wojcik
Affiliated Authors:
Mythily Ganapathi
Elaine M Pereira
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Synaptic Plasticity and Neurological Disorders (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Amino Acid Transport and Metabolism in Health and Disease (OpenAlex Topic)
Epilepsy (MeSH)
Epilepsy, Generalized (MeSH)
Seizures, Febrile (MeSH)
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Publication Type:
Article
Unique ID:
10.1002/ana.26485
PMID:
36073542
DOI:
10.1002/ana.26485
Journal:
Annals of Neurology
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: