Cargando…

STXBP1-Related Developmental and Epileptic Encephalopathy

Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.

Detalles Bibliográficos
Autores principales:	Wild, Brittani, Nelson, Stephen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Pediatric Neurology Briefs Publishers 2019
Materias:	Genetic Disorders
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942547/ https://www.ncbi.nlm.nih.gov/pubmed/31929717 http://dx.doi.org/10.15844/pedneurbriefs-33-6

Ejemplares similares

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
por: Stamberger, Hannah, et al.
Publicado: (2022)

Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
por: Srivastava, Siddharth, et al.
Publicado: (2016)

KCNA2-Related Epileptic Encephalopathy
por: Kearney, Jennifer A.
Publicado: (2015)

STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy
por: Vinci, Mirella, et al.
Publicado: (2023)

GRIN1 Mutations in Early-Onset Epileptic Encephalopathy
por: Chen, Wenjuan, et al.
Publicado: (2015)

A Timely Review of the Genetics of Epileptic Encephalopathies
por: Freeman, Jeremy L.
Publicado: (2015)

Early life seizures and epileptic spasms in STXBP1-related disorders
por: Thalwitzer, Kim M, et al.
Publicado: (2023)

De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures
por: Yang, Ping, et al.
Publicado: (2021)

Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy
por: Gong, Pan, et al.
Publicado: (2021)

Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies
por: Zhang, Feng, et al.
Publicado: (2022)

Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease
por: Al Mehdi, Krami, et al.
Publicado: (2019)

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function
por: Li, Dong, et al.
Publicado: (2016)

RARS1‐related developmental and epileptic encephalopathy
por: Wan, Lin, et al.
Publicado: (2023)

Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study
por: Gong, Pan, et al.
Publicado: (2021)

Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy
por: Chen, Wu, et al.
Publicado: (2020)

Delineating clinical and developmental outcomes in STXBP1-related disorders
por: Xian, Julie, et al.
Publicado: (2023)

Delineating clinical and developmental outcomes in STXBP1-related disorders
por: Xian, Julie, et al.
Publicado: (2023)

Inherited Developmental and Epileptic Encephalopathies
por: Bartolini, Emanuele
Publicado: (2021)

Epilepsy Course and Developmental Trajectories in STXBP1-DEE
por: Balagura, Ganna, et al.
Publicado: (2022)

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
por: Vlaskamp, Danique R.M., et al.
Publicado: (2019)

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy
por: Dong, Meng, et al.
Publicado: (2022)

Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy
por: McLeod, Faye, et al.
Publicado: (2022)

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy
por: Hung, Kun-Long, et al.
Publicado: (2022)

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
por: Johannesen, Katrine M., et al.
Publicado: (2021)

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy
por: Aronica, Eleonora, et al.
Publicado: (2023)

Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy
por: Kovačević, Jovana, et al.
Publicado: (2018)

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission
por: Lammertse, Hanna C A, et al.
Publicado: (2020)

Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy
por: Lu, Zongyang, et al.
Publicado: (2022)

Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy
por: Lu, Zongyang, et al.
Publicado: (2022)

Dravet Syndrome: A Developmental and Epileptic Encephalopathy
por: Lopez-Santiago, Luis, et al.
Publicado: (2019)

KCNQ2‐DEE: developmental or epileptic encephalopathy?
por: Berg, Anne T., et al.
Publicado: (2021)

Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders
por: Hussain, Shobbir
Publicado: (2014)

Case Series of Early SCN1A-Related Developmental and Epileptic Encephalopathies
por: Gowda, Vykuntaraju Kammasandra, et al.
Publicado: (2021)

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy
por: Bozarth, Xiuhua L., et al.
Publicado: (2023)

STXBP6 and B3GNT6 Genes are Associated With Selective IgA Deficiency
por: Lim, Che Kang, et al.
Publicado: (2021)

Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
por: Kessi, Miriam, et al.
Publicado: (2023)

In vivo calcium imaging reveals disordered interictal network dynamics in epileptic stxbp1b zebrafish
por: Liu, Jing, et al.
Publicado: (2021)

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
por: Ware, Tyson L., et al.
Publicado: (2019)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster
por: Takai, Akari, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_i4j7cg8u8atu45c49ccqobulv7