Associated Papers
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J et al.
Annals of Clinical and Translational Neurology, 2023
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Mohamed FE et al.
Frontiers in Pediatrics, 2023
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
Abdelrahman HA et al.
Child Neurology Open, 2019
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
Conroy J et al.
Journal of Human Genetics, 2016
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