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Times Cited: 20
Times Cited: 20
Times Cited
Times Co-cited
Similarity
Defining the phenotypic spectrum of SLC6A1 mutations.
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde,[...]. Epilepsia 2018
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Enhanced tonic GABAA inhibition in typical absence epilepsy.
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A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.
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The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.
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Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy.
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De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.
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GABA transporter deficiency causes tremor, ataxia, nervousness, and increased GABA-induced tonic conductance in cerebellum.
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The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
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The role of N-glycosylation in the stability, trafficking and GABA-uptake of GABA-transporter 1. Terminal N-glycans facilitate efficient GABA-uptake activity of the GABA transporter.
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GAT-1 regulates both tonic and phasic GABA(A) receptor-mediated inhibition in the cerebral cortex.
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ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.
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Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.