Cargando…

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

BACKGROUND AND OBJECTIVES: Variations in SLC9A6 cause the X-linked neurologic disorder Christianson syndrome in males. Meanwhile, female carriers with SLC9A6 variations may remain asymptomatic or develop intellectual disability, behavioral problems, and psychiatric illnesses. Only a few female carri...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nan, Haitian, Kim, Yeon-Jeong, Tsuchiya, Mai, Ishida, Aki, Haro, Hirotaka, Hiraide, Masaki, Ohtsuka, Toshihisa, Takiyama, Yoshihisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860467/ https://www.ncbi.nlm.nih.gov/pubmed/35198730 http://dx.doi.org/10.1212/NXG.0000000000000651

Ejemplares similares

Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5
por: Nan, Haitian, et al.
Publicado: (2018)

A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor
por: Nan, Haitian, et al.
Publicado: (2021)

Ubap1 knock-in mice reproduced the phenotype of SPG80
por: Shimozono, Keisuke, et al.
Publicado: (2022)

VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
por: Koh, Kishin, et al.
Publicado: (2019)

MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
por: Nan, Haitian, et al.
Publicado: (2021)

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report
por: Hata, Takanori, et al.
Publicado: (2019)

Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability
por: Hussain, Syeda Iqra, et al.
Publicado: (2023)

A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
por: Nan, Haitian, et al.
Publicado: (2021)

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
por: Valentino, Floriana, et al.
Publicado: (2021)

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
por: Balaraju, Sunitha, et al.
Publicado: (2019)

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
por: Hiraide, Takuya, et al.
Publicado: (2019)

Intellectual disabilities and yoga
por: Singh, Satendra
Publicado: (2013)

Anesthesia for intellectually disabled
por: Chaudhary, Kapil, et al.
Publicado: (2017)

Intellectual Disability and Parenthood
por: Kandel, Isack, et al.
Publicado: (2005)

Intellectual disability and antipsychotics
por: Iñiguez, I. Cuevas, et al.
Publicado: (2021)

Nymphomania with intellectual disability
por: Sharma, Mini, et al.
Publicado: (2022)

The Genetics of Intellectual Disability
por: Jansen, Sandra, et al.
Publicado: (2023)

Model of Intellectual Disability and the Relationship of Attitudes Towards the Sexuality of Persons with an Intellectual Disability
por: Parchomiuk, Monika
Publicado: (2012)

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
por: Nan, Haitian, et al.
Publicado: (2019)

Caregiving, intellectual disability, and dementia: Report of the Summit Workgroup on Caregiving and Intellectual and Developmental Disabilities
por: Heller, Tamar, et al.
Publicado: (2018)

Dental treatment under general anesthesia in an intellectually disabled child with intellectually disabled parents
por: Han, Jeong-Hwa, et al.
Publicado: (2016)

Risk Factors for Long Bone Fractures in Patients with Severe Motor and Intellectual Disabilities: A 6-year Follow-up Retrospective Study
por: Hagino, Tetsuo, et al.
Publicado: (2022)

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene
por: Nan, Haitian, et al.
Publicado: (2020)

Social Interaction Improved by Oxytocin in the Subclass of Autism with Comorbid Intellectual Disabilities
por: Higashida, Haruhiro, et al.
Publicado: (2019)

Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability
por: Jia, Xiaobo, et al.
Publicado: (2023)

The Health of People with Intellectual Disability
por: Lennox, Nicholas, et al.
Publicado: (2011)

Intellectual and Developmental Disabilities: Eugenics
por: Grenon, Ingrid, et al.
Publicado: (2014)

Autosomal dominant intellectual disability
por: Wieczorek, Dagmar
Publicado: (2018)

Adult neurogenesis in intellectual disabilities
por: Allegra, Manuela, et al.
Publicado: (2017)

Commentary: The origins of intellectual disability
por: Plomin, Robert
Publicado: (2022)

Empowering people with intellectual disability
por: Skuse, David
Publicado: (2011)

Intellectual disability: an Italian perspective
por: La Malfa, Giampaolo, et al.
Publicado: (2007)

Role of SLC4 and SLC26 solute carriers during oxidative stress
por: Remigante, Alessia, et al.
Publicado: (2022)

Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists
por: Wolfe, Kate, et al.
Publicado: (2017)

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
por: Jezela‐Stanek, Aleksandra, et al.
Publicado: (2020)

Trospium Chloride Transport by Mouse Drug Carriers of the Slc22 and Slc47 Families
por: Gorecki, Matthias, et al.
Publicado: (2020)

Human solute carrier SLC6A14 is the β-alanine carrier
por: Anderson, Catriona M H, et al.
Publicado: (2008)

Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities
por: Fallea, Antonio, et al.
Publicado: (2016)

Diet quality among people with intellectual disabilities and borderline intellectual functioning
por: Gast, David A. A., et al.
Publicado: (2021)

NON-INTELLECTUAL FACTORS IN LEARNING DISABILITY
por: Khurana, Suman
Publicado: (1980)

Cannot write session to /tmp/vufind_sessions/sess_v2fhsnrh6jiimd9tbg0skte611