Reactome | SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome Show undefined attributes

author	[Person:5661053] Gilfillan, GD [Person:5661013] Selmer, KK [Person:5661012] Roxrud, I [Person:1614164] Smith, R [Person:5661014] Kyllerman, M [Person:5661044] Eiklid, K [Person:5661054] Kroken, M [Person:5661003] Mattingsdal, M [Person:5661041] Egeland, T [Person:2206241] Stenmark, H [Person:5661074] Sj�holm, H [Person:5661049] Server, A [Person:5661032] Samuelsson, L [Person:5661019] Christianson, A [Person:5661018] Tarpey, P [Person:5661023] Whibley, A [Person:1614179] Stratton, MR [Person:3318334] Futreal, PA [Person:1614185] Teague, J [Person:1614058] Edkins, S [Person:4836525] Gecz, J [Person:4836501] Turner, G [Person:3165236] Raymond, FL [Person:5661009] Schwartz, C [Person:5661061] Stevenson, RE [Person:5661040] Undlien, DE [Person:5661073] Str�mme, P
created	[InstanceEdit:5661045] Jassal, Bijay, 2015-01-08
dbId	5661048
displayName	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
journal	Am. J. Hum. Genet.
pages	1003-10
pubMedIdentifier	18342287
schemaClass	LiteratureReference
title	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
url	http://www.ncbi.nlm.nih.gov/pubmed/18342287
volume	82
year	2008

Referrals

(literatureReference)

[Pathway:R-HSA-5619092] Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
[FailedReaction:R-HSA-5661039] Defective SLC9A6 does not exchange Na+ for H+ across the early endosome membrane

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