Research & Literature

Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.

Coorg R, Weisenberg JL

Pediatric neurology 2015; (53(6)):527-31.

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.

Sikora J, Leddy J, Gulinello M, Walkley SU

Disease models & mechanisms 2016; (9(1)):13-23 doi:10.1242/dmm.022780.

The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Sinajon P, Verbaan D, So J

Human genetics 2016; (135(8)):841-50 doi:10.1007/s00439-016-1675-5.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Masurel-Paulet A, Piton A, Chancenotte S, et al.

American journal of medical genetics. Part A 2016; (170(8)):2103-10 doi:10.1002/ajmg.a.37765.

A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.

Ilie A, Gao AY, Reid J, et al.

Molecular neurodegeneration 2016; (11(1)):63 doi:10.1186/s13024-016-0129-9.

Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.

Padmanabha H, Saini AG, Sahu JK, Singhi P

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-222050.

Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH.

Prasad H, Rao R

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(28)):E6640-E6649 doi:10.1073/pnas.1801612115.

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

Mathieu ML, de Bellescize J, Till M, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(6)):1124-1132 doi:10.1016/j.ejpn.2018.07.004.

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.

Ilie A, Gao AYL, Boucher A, et al.

Neurobiology of disease 2019; (121()):187-204 doi:10.1016/j.nbd.2018.10.002.

Reversal of ApoE4-induced recycling block as a novel prevention approach for Alzheimer's disease.

Xian X, Pohlkamp T, Durakoglugil MS, et al.

eLife 2018; (7()).

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.

Ieda D, Hori I, Nakamura Y, et al.

Human genome variation 2019; (6()):15 doi:10.1038/s41439-019-0046-x.

Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.

Pescosolido MF, Kavanaugh BC, Pochet N, et al.

Molecular neuropsychiatry 2019; (5(2)):98-108 doi:10.1159/000496341.

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

Richmond CM, Leventer R, Ryan MM, Delatycki MB

Clinical genetics 2020; (97(3)):516-520 doi:10.1111/cge.13666.

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Ikeda A, Yamamoto A, Ichikawa K, et al.

Epilepsy & behavior reports 2020; (13()):100349 doi:10.1016/j.ebr.2019.100349.

Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.

Petitjean H, Fatima T, Mouchbahani-Constance S, et al.

Pain 2020; (161(11)):2619-2628 doi:10.1097/j.pain.0000000000001961.

Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.

Yalcintepe S, Gurkan H

Clinical dysmorphology 2021; (30(1)):36-38 doi:10.1097/MCD.0000000000000358.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Acharya A, Kavus H, Dunn P, et al.

Journal of medical genetics 2022; (59(7)):669-677 doi:10.1136/jmedgenet-2021-107871.

Loss of Christianson Syndrome Na+/H+ Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons.

Pescosolido MF, Ouyang Q, Liu JS, Morrow EM

The Journal of neuroscience : the official journal of the Society for Neuroscience 2021; (41(44)):9235-9256 doi:10.1523/JNEUROSCI.1244-20.2021.

NHE6 depletion corrects ApoE4-mediated synaptic impairments and reduces amyloid plaque load.

Pohlkamp T, Xian X, Wong CH, et al.

eLife 2021; (10()).

Sleep and daytime behavior in individuals with Christianson Syndrome.

Gruber R, Scholes S, Bertone A, et al.

Sleep medicine 2022; (89()):55-59 doi:10.1016/j.sleep.2021.11.007.

Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.

Lee Y, Miller MR, Fernandez MA, et al.

Brain : a journal of neurology 2022; (145(9)):3187-3202 doi:10.1093/brain/awab467.

Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism.

Nan H, Kim YJ, Tsuchiya M, et al.

Neurology. Genetics 2022; (8(1)):e651 doi:10.1212/NXG.0000000000000651.

[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].

Gamirova RG, Barkov AI, Shaimuchametova VA, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2022; (122(9. Vyp. 2)):14-20 doi:10.17116/jnevro202212209214.

Characteristics and Challenges of Epilepsy in Children with Cerebral Palsy-A Population-Based Study.

Dos Santos Rufino A, Påhlman M, Olsson I, Himmelmann K

Journal of clinical medicine 2023; (12(1)) doi:10.3390/jcm12010346.

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.

Kavanaugh BC, Elacio J, Best CR, et al.

medRxiv : the preprint server for health sciences 2023; doi:10.1101/2023.11.11.23298218.

A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism.

Gebert J, Brunet T, Wagner M, et al.

Neuropediatrics 2024; (55(3)):209-212 doi:10.1055/a-2256-0722.

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Kavanaugh BC, Elacio J, Best CR, et al.

Journal of medical genetics 2024; (61(11)):1031-1039 doi:10.1136/jmg-2024-109973.

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.

Güven NE, Uçmak H, İlter Uçar Ç, et al.

Molecular syndromology 2024; (15(5)):398-402 doi:10.1159/000538015.

SLC9A6-Linked Parkinson Syndrome in Female Heterozygotes Is Associated With PET-Detectable Tau Pathology.

Yamamoto Y, Takahata K, Seki M, et al.

Neurology. Genetics 2025; (11(1)):e200235 doi:10.1212/NXG.0000000000200235.

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome.

Anderson CJ, Figueroa KP, Paul S, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2024.10.31.621435.

Pain experience of children with Christianson syndrome.

Premachandran S, Ocay DD, Beaulieu C, et al.

Pain 2025; (166(7)):1610-1621 doi:10.1097/j.pain.0000000000003522.

Christianson Syndrome Family Experiences: Results From Caregiver Interviews.

St Pierre DG, Best CR, Elacio J, et al.

Journal of child neurology 2025; (40(8)):603-611 doi:10.1177/08830738251327619.

Broadening the Scope: Enhancing Caregiver Research in Christianson Syndrome Through Diversity and In-Depth Exploration.

Iftikhar MK, Iftikhar QUA

Journal of child neurology 2025; (40(7)):592-593 doi:10.1177/08830738251339568.

NDPACX: a newly defined X-linked Parkinsonian syndrome associated with SLC9A6 hemizygote mutation.

Okochi R, Nihei Y, Ito D

Brain communications 2025; (7(6)):fcaf435 doi:10.1093/braincomms/fcaf435.