SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

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Impaired posttranslational processing and trafficking of an endosomal Na+/H+ exchanger NHE6 mutant (Δ370WST372) associated with X-linked intellectual disability and autism

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Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods

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Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons

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Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome

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SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses

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A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity

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Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

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Christianson syndrome in a patient with an interstitial Xq26.3 deletion

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Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat

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