Cargando…

A Novel CNTNAP2 Mutation Results in Abnormal Neuronal E/I Balance

CNTNAP2 (coding for protein Caspr2), a member of the neurexin family, plays an important role in the balance of excitatory and inhibitory post-synaptic currents (E/I balance). Here, we describe a novel pathogenic missense mutation in an infant with spontaneous recurrent seizures (SRSs) and intellect...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lu, Ping, Wang, Fengpeng, Zhou, Shuixiu, Huang, Xiaohua, Sun, Hao, Zhang, Yun-Wu, Yao, Yi, Zheng, Honghua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8562072/ https://www.ncbi.nlm.nih.gov/pubmed/34737720 http://dx.doi.org/10.3389/fneur.2021.712773

Ejemplares similares

Mutations of CNTNAP1 led to defects in neuronal development
por: Li, Wanxing, et al.
Publicado: (2020)

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
por: Badshah, Noor, et al.
Publicado: (2022)

CNTNAP4 deficiency in dopaminergic neurons initiates parkinsonian phenotypes
por: Zhang, Wenlong, et al.
Publicado: (2020)

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
por: Hengel, Holger, et al.
Publicado: (2017)

Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse
por: Cifuentes-Diaz, Carmen, et al.
Publicado: (2023)

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
por: Sabbagh, Sandra, et al.
Publicado: (2020)

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
por: Mittal, Rea, et al.
Publicado: (2021)

Developmental changes in electrophysiological properties of auditory cortical neurons in the Cntnap2 knockout rat
por: Mann, Rajkamalpreet S., et al.
Publicado: (2023)

Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation
por: Koizumi, Ryuichi, et al.
Publicado: (2021)

Defining the Contribution of CNTNAP2 to Autism Susceptibility
por: Sampath, Srirangan, et al.
Publicado: (2013)

CNTNAP2: exploring association with autism phenotypes in mice
Publicado: (2011)

Correction: Defining the Contribution of CNTNAP2 to Autism Susceptibility
por: Sampath, Srirangan, et al.
Publicado: (2013)

Association of GDNF and CNTNAP2 gene variants with gambling
por: Das, Arundhuti, et al.
Publicado: (2019)

PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas
por: Rautajoki, Kirsi J., et al.
Publicado: (2022)

CNTNAP4 signaling regulates osteosarcoma disease progression
por: Qin, Qizhi, et al.
Publicado: (2023)

Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type
por: Koch, Nils A., et al.
Publicado: (2023)

Patient-derived hiPSC neurons with heterozygous CNTNAP2 deletions display altered neuronal gene expression and network activity
por: Flaherty, Erin, et al.
Publicado: (2017)

Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese
por: Shimizu, Ai, et al.
Publicado: (2012)

CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs
por: Kos, Miriam, et al.
Publicado: (2012)

CNTNAP2 stabilizes interneuron dendritic arbors through CASK
por: Gao, Ruoqi, et al.
Publicado: (2018)

Degraded tactile coding in the Cntnap2 mouse model of autism
por: Wang, Han Chin, et al.
Publicado: (2023)

Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis During Embryonic Neurodevelopment Under Inositol Deficiency
por: Yue, Huixuan, et al.
Publicado: (2021)

Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations
por: Spinelli, Edoardo Gioele, et al.
Publicado: (2022)

Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature
por: An, Ran, et al.
Publicado: (2022)

Immature Neurons and Radial Glia, But Not Astrocytes or Microglia, Are Altered in Adult Cntnap2 and Shank3 Mice, Models of Autism
por: Cope, Elise C., et al.
Publicado: (2016)

Hyperexcitable and immature-like neuronal activity in the auditory cortex of adult rats lacking the language-linked CNTNAP2 gene
por: Scott, Kaela E, et al.
Publicado: (2022)

Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System
por: Shi, Qi, et al.
Publicado: (2021)

CNTNAP2 variants affect early language development in the general population
por: Whitehouse, A J O, et al.
Publicado: (2011)

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
por: Gregor, Anne, et al.
Publicado: (2011)

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
por: Scala, Marcello, et al.
Publicado: (2021)

Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder
por: Gandhi, Tanya, et al.
Publicado: (2023)

A Lifespan Approach to Balance in Static and Dynamic Conditions: The Effect of Age on Balance Abilities
por: Marchesi, Giorgia, et al.
Publicado: (2022)

Abstract 74: Inactivation of Cntnap4 in Cranial Neural Crest Cells Results in Craniofacial Bone Deformities and Hydrocephalus
por: Ha, Pin, et al.
Publicado: (2019)

Abnormal Temporal Slowing on EEG Findings in Preclinical Alzheimer’s Disease Patients With the ApoE4 Allele: A Pilot Study
por: Kim, Nathan N, et al.
Publicado: (2023)

Effects of vestibular rehabilitation training combined with anti-vertigo drugs on vertigo and balance function in patients with vestibular neuronitis: a systematic review and meta-analysis
por: Chen, Jia, et al.
Publicado: (2023)

Adaptive Balance in Posterior Cerebellum
por: Barmack, Neal H., et al.
Publicado: (2021)

Association Between Acid-Sensing Ion Channel 3 Gene Variants and Balance Impairment in People With Mild Traumatic Brain Injury
por: Lee, Hsun-Hua, et al.
Publicado: (2019)

A patient with MELAS syndrome combined with autoimmune abnormalities: a case report
por: Zhao, Mingmin, et al.
Publicado: (2023)

Effects of balance training in addition to auxiliary activity on balance function of patients with stroke at high risk for falls
por: Tan, Huiqun, et al.
Publicado: (2023)

Abnormal Cerebral Blood Flow and Functional Connectivity Strength in Subjects With White Matter Hyperintensities
por: Huang, Hao, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4r5s6bg56j3tklq0tq2l1rrl9d