Associated Papers
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
Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls.
Ma L et al.
Stem Cell Research, 2021
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
Lizarraga SB et al.
Science Translational Medicine, 2021
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.
Ikeda A et al.
Epilepsy & Behavior Reports, 2020
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Mathieu ML et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Pescosolido MF et al.
Annals of Neurology, 2014
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