Associated Papers
Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.
Jiao JP et al.
Orphanet Journal of Rare Diseases, 2025
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.
Kavanaugh BC et al.
Journal of Medical Genetics, 2024
Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.
Kavanaugh BC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review.
Dong Y et al.
Frontiers in Neurology, 2023
Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.
Zhang X et al.
Journal of Clinical Laboratory Analysis, 2022
Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.
Lan Y et al.
Frontiers in Genetics, 2021
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.
Ikeda A et al.
Epilepsy & Behavior Reports, 2020
A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Ilie A et al.
Molecular Neurodegeneration, 2016
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Pescosolido MF et al.
Annals of Neurology, 2014
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
Takahashi Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A et al.
Molecular Psychiatry, 2011
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD et al.
American Journal of Human Genetics, 2008
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