Cargando…

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between DYNC1H1 variants and epilepsy. Herein, we report a case of drug-resistant focal epilepsy associa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chung, Chi-Ting, Lee, Ni-Chung, Fan, Sung-Pin, Hung, Miao-Zi, Lin, Yen-Heng, Chen, Chih-Hao, Jao, Tun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829698/ https://www.ncbi.nlm.nih.gov/pubmed/36636459 http://dx.doi.org/10.1016/j.ebr.2022.100580

Ejemplares similares

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations
por: Li, Jia-Tong, et al.
Publicado: (2022)

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
por: Pezzani, Lidia, et al.
Publicado: (2020)

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
por: Kessler, Kristin, et al.
Publicado: (2015)

Potential prognostic and predictive value of UBE2N, IMPDH1, DYNC1LI1 and HRASLS2 in colorectal cancer stool specimens
por: Chen, Yu-Nung, et al.
Publicado: (2023)

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies
por: Kessler, K, et al.
Publicado: (2015)

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum
por: Mentis, Alexios-Fotios A., et al.
Publicado: (2022)

De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
por: Yang, Haipo, et al.
Publicado: (2021)

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
por: Becker, Lena-Luise, et al.
Publicado: (2020)

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
por: Vig, Anjali, et al.
Publicado: (2020)

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient
por: Gelineau-Morel, Rose, et al.
Publicado: (2016)

Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review
por: Ge, Wen-Rong, et al.
Publicado: (2023)

Anti-recoverin antibody positive Heidenhain variant CJD: a case report
por: Chung, Chi-Ting, et al.
Publicado: (2023)

Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy
por: Yan, Hong-Jun, et al.
Publicado: (2023)

HINT1 neuropathy: Expanding the genotype and phenotype spectrum
por: Morel, Victor, et al.
Publicado: (2022)

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum
por: Park, Joohyun, et al.
Publicado: (2019)

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1
por: Castle, Alison M.R., et al.
Publicado: (2021)

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis
por: Huddar, Akshata, et al.
Publicado: (2021)

Effect of conditional deletion of cytoplasmic dynein heavy chain DYNC1H1 on postnatal photoreceptors
por: Dahl, Tiffanie M., et al.
Publicado: (2021)

Dync1li1 is required for the survival of mammalian cochlear hair cells by regulating the transportation of autophagosomes
por: Zhang, Yuan, et al.
Publicado: (2022)

Identification of a de novo DYNC1H1 mutation via WES according to published guidelines
por: Ding, Dongxue, et al.
Publicado: (2016)

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance
por: Niu, Qi, et al.
Publicado: (2015)

DYNC1I1 Promotes the Proliferation and Migration of Gastric Cancer by Up-Regulating IL-6 Expression
por: Gong, Li-Bao, et al.
Publicado: (2019)

Bioinformatics analysis identifies DYNC1I1 as prognosis marker in male patients with liver hepatocellular carcinoma
por: Zhou, Jian, et al.
Publicado: (2021)

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations
por: Su, Tangfeng, et al.
Publicado: (2022)

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
por: Dines, Jennifer N., et al.
Publicado: (2018)

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
por: Hikmat, Omar, et al.
Publicado: (2021)

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
por: Melland, Holly, et al.
Publicado: (2022)

Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
por: Xu, Lu, et al.
Publicado: (2022)

Expanding the Phenotypic Spectrum of Olmsted Syndrome
por: Wilson, Neil J, et al.
Publicado: (2015)

Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants
por: Yang, Ying, et al.
Publicado: (2022)

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
por: Taylor, S. Paige, et al.
Publicado: (2015)

Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants
por: Perilli, Lorenzo, et al.
Publicado: (2022)

Linc-DYNC2H1-4 promotes EMT and CSC phenotypes by acting as a sponge of miR-145 in pancreatic cancer cells
por: Gao, Yuran, et al.
Publicado: (2017)

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
por: Lin, Zhongdong, et al.
Publicado: (2017)

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract
por: Hertecant, Jozef, et al.
Publicado: (2016)

TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis
por: Gong, Libao, et al.
Publicado: (2019)

Corrigendum: DYNC1I1 Promotes the Proliferation and Migration of Gastric Cancer by Up-Regulating IL-6 Expression
por: Gong, Li-Bao, et al.
Publicado: (2022)

Lidocaine has antitumor effect on hepatocellular carcinoma via the circ_DYNC1H1/miR-520a-3p/USP14 axis
por: Liu, Hua, et al.
Publicado: (2021)

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
por: Dines, Jennifer N., et al.
Publicado: (2018)

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
por: Yu, Mullin Ho-Chung, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_tjaosv4c2e7polidkrq8ap2i73