Language Regression in an Atypical SLC6A1 Mutation
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Reference3 articles.
1. The genetic landscape of the epileptic encephalopathies of infancy and childhood;Mctague;Lancet Neurol,2016
2. Mutation in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures;Carvill;Am J Hum Genet,2015
3. SLC6A1 mutation and ketogenic diet in epilepsy with myoclonic-atonic seizures;Palmer;Pediatr Neurol,2016
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1. Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder;Frontiers in Neuroscience;2023-02-21
2. Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1;International Journal of Molecular Sciences;2023-01-04
3. Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders;Frontiers in Molecular Biosciences;2022-03-02
4. A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder;Journal of Child Psychology and Psychiatry;2021-08-23
5. Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits;Pharmacology & Therapeutics;2021-06
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