P446: A novel SLC9A6 variant identified in an autistic boy with epilepsy: Christianson syndrome

P446: A novel SLC9A6 variant identified in an autistic boy with epilepsy: Christianson syndrome

Bibliographic Details
Main Authors:	Punita Gupta, Lorien King, Leah Fried
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774424004862

Similar Items

Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep
by: Xiaorui Liu, et al.
Published: (2022-01-01)

Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review
by: Yan Dong, et al.
Published: (2023-05-01)

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome
by: Alina Ilie, et al.
Published: (2019-01-01)

Donor Splice Site Variant in <i>SLC9A6</i> Causes Christianson Syndrome in a Lithuanian Family: A Case Report
by: Gunda Petraitytė, et al.
Published: (2022-02-01)

P186: Cantu syndrome: Expanding the phenotype of this rare autosomal dominant condition
by: Punita Gupta, et al.
Published: (2023-01-01)

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
by: Jakub Sikora, et al.
Published: (2016-01-01)

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature
by: Azusa Ikeda, et al.
Published: (2020-01-01)

Functional investigation of SLC1A2 variants associated with epilepsy
by: Qi Qu, et al.
Published: (2022-12-01)

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
by: Sarah Grosche, et al.
Published: (2021-11-01)

SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE
by: Soad Elziny, et al.
Published: (2023-10-01)

Epilepsy in Children with Autistic Spectrum Disorder
by: Iliyana Pacheva, et al.
Published: (2019-01-01)

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
by: Jonai Pujol‐Giménez, et al.
Published: (2023-06-01)

Social engagement and loneliness in school-age autistic girls and boys
by: Michelle Dean, et al.
Published: (2023-04-01)

Dermatoglyphic characteristics of digito-palmar complex in autistic boys in Serbia
by: Stošljević Miodrag, et al.
Published: (2013-01-01)

Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria
by: Sha Yu, et al.
Published: (2020-05-01)

Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat.
by: Keijiro Mizukami, et al.
Published: (2016-01-01)

The GCKR-P446L gene variant predisposes to raised blood cholesterol and lower blood glucose in the P446L mouse-a model for GCKR rs1260326
by: Brian E. Ford, et al.
Published: (2023-06-01)

Psoriasis-Specific RNA Isoforms Identified by RNA-seq Analysis of 173,446 Transcripts
by: Sulev Kõks, et al.
Published: (2016-10-01)

Epilepsy in Boys with Duchenne Muscular Dystrophy
by: M Etemadifar, et al.
Published: (2004-06-01)

Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls
by: Li Ma, et al.
Published: (2021-07-01)

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects
by: Zhaowei Zhou, et al.
Published: (2019-07-01)

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.
by: Rees, MG, et al.
Published: (2012)

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk
by: Rees, MG, et al.
Published: (2011)

Genetic association of SLC2A9 variants with gout susceptibility in Malay population
by: Adanan @ Adnan, Mahfudzah
Published: (2015)

Pathogenic Variants of <i>SLC22A12</i> (URAT1) and <i>SLC2A9</i> (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of <i>SLC2A9</i> Variant c.374C>T; p.(T125M)
by: Ana Perdomo-Ramirez, et al.
Published: (2023-05-01)

KAE 446 - KIMIA FORENSIK APRIL 1993
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1993)

KAE 446 - KIMIA FORENSIK APRIL 1995
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1995)

KAE 446 - KIMIA FORENSIK APRIL 1996
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1996)

KAE446 - KIMIA FORENSIK APRIL 1994
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1994)

KAE446 - KIMIA FORENSIK APRIL 1997
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1997)

Evaluation of the Influence of Genetic Variants of <i>SLC2A9</i> (GLUT9) and <i>SLC22A12</i> (URAT1) on the Development of Hyperuricemia and Gout
by: Katerina Pavelcova, et al.
Published: (2020-08-01)

Rezension zu: Alby, Tom (2007) Web 2.0. Konzepte, Anwendungen, Technologien. München: Hanser, € 19,90, ISBN-10: 3-446-40931-9, ISBN-13: 978-3-446-40931-6
by: Ben Kaden
Published: (2006-12-01)

446 Identifying neural and behavioral correlates of social learning and empathetic responding associated with early life adversity
by: Lakota Watson, et al.
Published: (2024-04-01)

Serum binding folate receptor autoantibodies lower in autistic boys and positively-correlated with folate
by: Ai Shi, et al.
Published: (2024-03-01)

Sequence learning with stochastic feedback in a cross-cultural sample of boys in the autistic spectrum
by: Hentschel, Maren, et al.
Published: (2016)

KAE 446-3 - KIMIA FORENSIK JUN 1989.
by: PPSK, PUSAT PENGAJIAN SAINS KIMIA
Published: (1989)

RMK 446 - PENGURUSAN PROJEK BINAAN APRIL 1993.
by: PPPB, Pusat Pengajian Perumahan Dan Bangunan
Published: (1993)

KAE 446 - KIMIA FORENSIK MAC-APRIL 1990
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1990)

KAE 446- KIMIA FORENSIK MAC-APRIL 1989
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1989)

KAE 446-3 - KIMIA FORENSIK JUN 1989
by: PPSK, Pusat Pengajian Sains Kimia
Published: (1989)