Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Ponghatai Boonsimma"'
Autor:
Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, Supavadee Jantasuwan, Kanokwan Santawong, Netchanok Leela-adisorn, Siraprapa Tongkobpetch, Chupong Ittiwut, Vitchayaporn Emarach Saengow, Wuttichart Kamolvisit, Ponghatai Boonsimma, Saknan Bongsebandhu-phubhakdi, Vorasuk Shotelersuk
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract 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 e
Externí odkaz:
https://doaj.org/article/34faeeb0f7da4b4c958907783b71d468
Autor:
Sarinya Summa, Chupong Ittiwut, Pimchanok Kulsirichawaroj, Tanitnun Paprad, Surachai Likasitwattanakul, Oranee Sanmaneechai, Ponghatai Boonsimma, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)
Abstract Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determin
Externí odkaz:
https://doaj.org/article/257deb5fa9a54799986dee357b92530d
Autor:
Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, Ponghatai Boonsimma, Kanjana Prangphan, Mongkol Chanvanichtrakool
Publikováno v:
Pediatric Neurology. 136:50-55
Neuronal ceroid lipofuscinoses (NCLs) (hereafter described as CLN disease) comprise a rare and life-limiting set of genetically inherited neurodegenerative disorders that are characterized by abnormal lysosomal storage. The NCL disorders are, collect
Autor:
Sarinya Summa, Chupong Ittiwut, Pimchanok Kulsirichawaroj, Tanitnun Paprad, Surachai Likasitwattanakul, Oranee Sanmaneechai, Ponghatai Boonsimma, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the uti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd801c21df5550e0fc4280108b60a2c
https://doi.org/10.21203/rs.3.rs-2024714/v1
https://doi.org/10.21203/rs.3.rs-2024714/v1
Autor:
Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, Supavadee Jantasuwan, Kanokwan Santawong, Netchanok Leela-adisorn, Siraprapa Tongkobpetch, Chupong Ittiwut, Vitchayaporn Saengow, Wuttichart Kamolvisit, Ponghatai Boonsimma, Saknan Bongsebandhu-Phubhakdi, Vorasuk Shotelersuk
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 encephalo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68f7b61e5694874ad03eb603ccc80588
https://doi.org/10.21203/rs.3.rs-1966853/v1
https://doi.org/10.21203/rs.3.rs-1966853/v1
Autor:
Vorasuk Shotelersuk, Thantrira Porntaveetus, Thanakorn Theerapanon, Chawan Manaspon, Ponghatai Boonsimma, Chureerat Phokaew, Kanokwan Sriwattanapong
Publikováno v:
American Journal of Medical Genetics Part A. 185:3068-3073
PYCR2 pathogenic variants lead to an autosomal recessive hypomyelinating leukodystrophy 10 (HLD10), characterized by global developmental delay, microcephaly, facial dysmorphism, movement disorder, and hypomyelination. This study identified the first
Autor:
Pattara Wiromrat, Prasit Phowthongkum, Vorasuk Shotelersuk, Wanna Chetruengchai, Chureerat Phokaew, Duangrurdee Wattanasirichaigoon, Chupong Ittiwut, Kitiwan Rojnueangnit, Mongkol Chanvanichtrakool, Ponghatai Boonsimma, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Chutima Phuaksaman, Adjima Assawapitaksakul, Chalurmpon Srichomthong, Wuttichart Kamolvisit, Chulaluck Kuptanon
Publikováno v:
Clinical Genetics. 100:100-105
The use of rapid DNA sequencing technology in severely ill children in developed countries can accurately identify diagnoses and positively impact patient outcomes. This study sought to evaluate the outcome of Thai children and adults with unknown et
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability
Autor:
Ponghatai Boonsimma, Kanya Suphapeetiporn, Sathida Poonmaksatit, Tayard Desudchit, Vorasuk Shotelersuk, Chupong Ittiwut, Rungnapa Ittiwut
Publikováno v:
Brain and Development. 43:490-494
Background In approximately half of patients with epilepsy and intellectual disability (ID), the cause is unidentified and could be a mutation in a new disease gene. Patient description To determine the discovery of disease-causing mutation in a fema
Autor:
Vorasuk Shotelersuk, Ponghatai Boonsimma, Kanya Suphapeetiporn, Kanokwan Boonyapisit, Oranee Sanmaneechai, Chupong Ittiwut, Chaiyos Khongkhatithum, Nalinee Pattrakornkul
Publikováno v:
Neuromuscular Disorders. 30:851-858
Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of genetic disorders of the neuromuscular junction. Next generation sequencing has been increasingly used for molecular diagnosis in CMS patients. This study aimed to identify the d
Autor:
Kanya Suphapeetiporn, Vorasuk Shotelersuk, Sirorat Suwannachote, Chupong Ittiwut, Chureerat Phokaew, Ponghatai Boonsimma
Publikováno v:
Brain and Development. 42:546-550
Background GABAA receptors are ligand-gated chloride channels that regulate inhibitory neurotransmission in the central nervous system. Recently, monoallelic de novo mutations in GABRA5 resulting in altered inhibitory synapses were found in three pat