Cargando…

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

BACKGROUND: Mutations in voltage-gated sodium channel (SCN) genes are supposed to be of importance in the etiology of psychiatric and neurological diseases, in particular in the etiology of seizures. Previous studies report a potential susceptibility region at the chromosomal locus 2q including SCN1...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nickel, Kathrin, Tebartz van Elst, Ludger, Domschke, Katharina, Gläser, Birgitta, Stock, Friedrich, Endres, Dominique, Maier, Simon, Riedel, Andreas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090917/ https://www.ncbi.nlm.nih.gov/pubmed/30071822 http://dx.doi.org/10.1186/s12888-018-1822-8

Ejemplares similares

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?
por: Endres, Dominique, et al.
Publicado: (2019)

Systematic Review: Overlap Between Eating, Autism Spectrum, and Attention-Deficit/Hyperactivity Disorder
por: Nickel, Kathrin, et al.
Publicado: (2019)

Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study
por: Maier, Simon, et al.
Publicado: (2023)

Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder
por: Runge, Kimon, et al.
Publicado: (2020)

Altered Intermittent Rhythmic Delta and Theta Activity in the Electroencephalographies of High Functioning Adult Patients with Autism Spectrum Disorder
por: Endres, Dominique, et al.
Publicado: (2017)

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
por: Yokoi, Takayuki, et al.
Publicado: (2018)

Developmental changes in brain activity of heterozygous Scn1a knockout rats
por: Tahara, Mayu, et al.
Publicado: (2023)

Inferior Frontal Gyrus Volume Loss Distinguishes Between Autism and (Comorbid) Attention-Deficit/Hyperactivity Disorder—A FreeSurfer Analysis in Children
por: Nickel, Kathrin, et al.
Publicado: (2018)

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation
por: Endres, Dominique, et al.
Publicado: (2020)

State or trait: the neurobiology of anorexia nervosa — contributions of a functional magnetic resonance imaging study
por: Göller, Selma, et al.
Publicado: (2022)

Data on mutations and Clinical features in SCN1A or SCN2A gene
por: Kong, Yanting, et al.
Publicado: (2018)

Novel presentation of SCN5A nonsense mutation as SCN5A overlap syndrome
por: Ahn, Hyo-Jeong, et al.
Publicado: (2021)

Vitamin D Deficiency in Adult Patients with Schizophreniform and Autism Spectrum Syndromes: A One-Year Cohort Study at a German Tertiary Care Hospital
por: Endres, Dominique, et al.
Publicado: (2016)

Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis
por: Li, Mengmeng, et al.
Publicado: (2021)

Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families
por: Molitor, Nadine, et al.
Publicado: (2022)

Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
por: Sacilotto, Luciana, et al.
Publicado: (2017)

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report
por: Sharkia, Rajech, et al.
Publicado: (2016)

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
por: de Lange, Iris M., et al.
Publicado: (2019)

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels
por: Baker, Mark D., et al.
Publicado: (2020)

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
por: Hill, Sophie F., et al.
Publicado: (2023)

Glutathione metabolism in the prefrontal brain of adults with high-functioning autism spectrum disorder: an MRS study
por: Endres, Dominique, et al.
Publicado: (2017)

Scn1b deletion in adult mice results in seizures and SUDEP
por: O'Malley, Heather A., et al.
Publicado: (2019)

A case of co-occuring synesthesia, autism, prodigious talent and strong structural brain connectivity
por: Riedel, Andreas, et al.
Publicado: (2020)

Antibody indices of infectious pathogens from serum and cerebrospinal fluid in patients with schizophrenia spectrum disorders
por: Runge, Kimon, et al.
Publicado: (2022)

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome
por: Lenk, Guy M., et al.
Publicado: (2020)

An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo
por: Man, Joyce C. K., et al.
Publicado: (2019)

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
por: Jaber, Dana, et al.
Publicado: (2021)

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease
por: Wong, Jennifer C., et al.
Publicado: (2021)

Regulation of SCN3B/scn3b by Interleukin 2 (IL-2): IL-2 modulates SCN3B/scn3b transcript expression and increases sodium current in myocardial cells
por: Zhao, Yuanyuan, et al.
Publicado: (2016)

Congenital Insensitivity to Pain: Novel SCN9A Missense and In-Frame Deletion Mutations
por: Cox, James J, et al.
Publicado: (2010)

Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A
por: Wang, Jing-Yang, et al.
Publicado: (2022)

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report
por: Nijak, Aleksandra, et al.
Publicado: (2020)

A Neglected Topic in Neuroscience: Replicability of fMRI Results With Specific Reference to ANOREXIA NERVOSA
por: Horster, Isabelle, et al.
Publicado: (2020)

Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome
por: Yuan, Yukun, et al.
Publicado: (2019)

Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a(+/)(-) mouse model of Dravet syndrome
por: Anderson, Lyndsey L., et al.
Publicado: (2023)

Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium
por: Krause, Ulrich, et al.
Publicado: (2015)

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients
por: Ricci, Maria Teresa, et al.
Publicado: (2014)

Autoantibody-associated psychiatric syndromes: a systematic literature review resulting in 145 cases
por: Endres, Dominique, et al.
Publicado: (2022)

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
por: Lin, Kao-Min, et al.
Publicado: (2019)

Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome
por: Zaytseva, Anastasia K., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_hmk0gkc521magi93suqofc4knb