Cargando…

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

Mutations in KCNQ2 encoding for voltage-gated K channel subunits underlying the neuronal M-current have been associated with infantile-onset epileptic disorders. The clinical spectrum ranges from self-limited neonatal seizures to epileptic encephalopathy and delayed development. Mutations in KCNQ2 c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chokvithaya, Suphalak, Caengprasath, Natarin, Buasong, Aayalida, Jantasuwan, Supavadee, Santawong, Kanokwan, Leela-adisorn, Netchanok, Tongkobpetch, Siraprapa, Ittiwut, Chupong, Saengow, Vitchayaporn Emarach, Kamolvisit, Wuttichart, Boonsimma, Ponghatai, Bongsebandhu-phubhakdi, Saknan, Shotelersuk, Vorasuk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971330/ https://www.ncbi.nlm.nih.gov/pubmed/36849527 http://dx.doi.org/10.1038/s41598-023-29924-y

Ejemplares similares

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
por: Summa, Sarinya, et al.
Publicado: (2023)

Monoamine Levels and Parkinson’s Disease Progression: Evidence From a High-Performance Liquid Chromatography Study
por: Wichit, Patsorn, et al.
Publicado: (2021)

Whole exome sequencing for diagnosis of hereditary thrombocytopenia
por: Mekchay, Ponthip, et al.
Publicado: (2020)

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases
por: Sinthuwiwat, Thivaratana, et al.
Publicado: (2022)

MCM-2, Ki-67, and EGFR downregulated expression levels in advanced stage laryngeal squamous cell carcinoma
por: Vivatvakin, Sarocha, et al.
Publicado: (2021)

Levodopa-induced dyskinesia in early-onset Parkinson’s disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand
por: Thanprasertsuk, Sekh, et al.
Publicado: (2023)

The protective effects of pomelo extract (Citrus grandis L. Osbeck) against fructose-mediated protein oxidation and glycation
por: Caengprasath, Natarin, et al.
Publicado: (2013)

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
por: Caengprasath, Natarin, et al.
Publicado: (2021)

Cortical spreading depression impairs hippocampal long-term potentiation by the alteration of glutamate receptor responses
por: Bongsebandhu-Phubhakdi, S, et al.
Publicado: (2013)

EHMTI-0199. CGRP modulates trigeminal ganglionic neuronal excitability in minimally low pH condition
por: Jansri, U, et al.
Publicado: (2014)

Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings
por: Kapol, Nattiya, et al.
Publicado: (2023)

EHMTI-0308. Cortical spreading depression increases NR2A/NR2B ratio by altering numbers of nr2a and nr2b subunit-containing nmda receptors in the hippocampus
por: Hansrivijit, P, et al.
Publicado: (2014)

Deciphering migraine pain mechanisms through electrophysiological insights of trigeminal ganglion neurons
por: Vongseenin, S., et al.
Publicado: (2023)

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations
por: THAWEESAPPHITHAK, Sermporn, et al.
Publicado: (2022)

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis
por: Thewamit, Rapeepat, et al.
Publicado: (2023)

TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
por: Sodsai, Pimpayao, et al.
Publicado: (2022)

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis
por: Isaranuwatchai, Suramath, et al.
Publicado: (2023)

Genetic diagnosis for adult patients at a genetic clinic
por: Rojnueangnit, Kitiwan, et al.
Publicado: (2022)

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
por: Tongkobpetch, Siraprapa, et al.
Publicado: (2017)

Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review
por: Wejjakul, Witchuree, et al.
Publicado: (2017)

Erratum: Missing Sentence and Word
por: Wejjakul, Witchuree, et al.
Publicado: (2018)

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2017)

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7
por: Songsantiphap, Chankiat, et al.
Publicado: (2020)

Anthropometric Markers and Iron Status of 6–12-Year-Old Thai Children: Associations and Predictors
por: Suteerojntrakool, Orapa, et al.
Publicado: (2021)

Exposure to Bisphenol A and Its Analogs among Thai School-Age Children
por: Numsriskulrat, Nattakarn, et al.
Publicado: (2023)

Hypomethylation of Intragenic LINE-1 Represses Transcription in Cancer Cells through AGO2
por: Aporntewan, Chatchawit, et al.
Publicado: (2011)

Internalization-Dependent Free Fatty Acid Receptor 2 Signaling Is Essential for Propionate-Induced Anorectic Gut Hormone Release
por: Caengprasath, Natarin, et al.
Publicado: (2020)

Student academic performance in non-lecture physiology topics following the abrupt change from traditional on-site teaching to online teaching during COVID-19 pandemic
por: Varachotisate, Pachara, et al.
Publicado: (2022)

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
por: Hemwong, Nalinee, et al.
Publicado: (2019)

Distinct phosphorylation sites in a prototypical GPCR differently orchestrate β-arrestin interaction, trafficking, and signaling
por: Dwivedi-Agnihotri, Hemlata, et al.
Publicado: (2020)

PTPRF is disrupted in a patient with syndromic amastia
por: Ausavarat, Surasawadee, et al.
Publicado: (2011)

Genetic basis of sudden death after COVID-19 vaccination in Thailand
por: Ittiwut, Chupong, et al.
Publicado: (2022)

The Relationship Between Personal Factors, Smoke Exposure at Home, and Respiratory Problems in Early Childhood in Nakhon Si Thammarat Province, Thailand
por: Phetruang, Apinya, et al.
Publicado: (2023)

Antiproliferative and antimigratory activities of bisphosphonates in human breast cancer cell line MCF-7
por: Buranrat, Benjaporn, et al.
Publicado: (2019)

Bis-BODIPY linked-triazole based on catechol core for selective dual detection of Ag(+) and Hg(2+)
por: Saiyasombat, Worakrit, et al.
Publicado: (2021)

Serum Cortisol as a Biomarker of Severe Dengue
por: Bongsebandhu-phubhakdi, Chansuda, et al.
Publicado: (2023)

Drinking abstinence during a 3-month abstinence campaign in Thailand: weighted analysis of a national representative survey
por: Saengow, Udomsak
Publicado: (2019)

Inhibition of Skin Pathogenic Bacteria, Antioxidant and Anti-Inflammatory Activity of Royal Jelly from Northern Thailand
por: Uthaibutra, Vitchayaporn, et al.
Publicado: (2023)

fosA3 overexpression with transporter mutations mediates high-level of fosfomycin resistance and silence of fosA3 in fosfomycin-susceptible Klebsiella pneumoniae producing carbapenemase clinical isolates
por: Singkham-in, Uthaibhorn, et al.
Publicado: (2020)

In Vitro Synergism of Azithromycin Combination with Antibiotics against OXA-48-Producing Klebsiella pneumoniae Clinical Isolates
por: Singkham-in, Uthaibhorn, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_cg23aslvtdv39qb7b2nug56q83