Cargando…

Variants in BSN gene associated with epilepsy with favourable outcome

BACKGROUND: BSN gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. This study aims to explore the relationship between BSN variants and epilepsy. METHODS: Whole-exome sequencing was performed in a cohort of 313 cases (trios) with epi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ye, Tingting, Zhang, Jiwei, Wang, Jie, Lan, Song, Zeng, Tao, Wang, Huaili, He, Xuelian, Li, Bing-Mei, Deng, Weiwen, Liao, Wei-Ping, Liu, Xiao-Rong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2023
Materias:	Neurogenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439262/ https://www.ncbi.nlm.nih.gov/pubmed/36600631 http://dx.doi.org/10.1136/jmg-2022-108865

Ejemplares similares

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
por: Pérez-Palma, Eduardo, et al.
Publicado: (2017)

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
por: Addis, Laura, et al.
Publicado: (2018)

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
por: Serpieri, Valentina, et al.
Publicado: (2023)

Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
por: Bobbili, Dheeraj Reddy, et al.
Publicado: (2020)

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients
por: Kuhn, Marius, et al.
Publicado: (2016)

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
por: Ogonowski, Natalia, et al.
Publicado: (2023)

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
por: Maroofian, Reza, et al.
Publicado: (2023)

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
por: Cao, Xuanye, et al.
Publicado: (2021)

Identification of a spontaneously arising variant affecting thermotaxis behavior in a recombinant inbred Caenorhabditis elegans line
por: Yeon, Jihye, et al.
Publicado: (2023)

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
por: Yigit, Gökhan, et al.
Publicado: (2022)

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
por: Vogt, Guido, et al.
Publicado: (2022)

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
por: Maroofian, Reza, et al.
Publicado: (2021)

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
por: Mirchi, Amytice, et al.
Publicado: (2023)

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
por: Tulli, Susanna, et al.
Publicado: (2019)

Social defeat stress induces genome-wide 5mC and 5hmC alterations in the mouse brain
por: Kuehner, Janise N, et al.
Publicado: (2023)

Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression
por: Deng, Xiao, et al.
Publicado: (2019)

Myelin oligodendrocyte glycoprotein-associated disorders are associated with HLA subtypes in a Chinese paediatric-onset cohort
por: Sun, Xiaobo, et al.
Publicado: (2020)

Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease
por: Tian, Yun, et al.
Publicado: (2022)

A toolkit for converting Gal4 into LexA and Flippase transgenes in Drosophila
por: Karuparti, Sasidhar, et al.
Publicado: (2023)

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy
por: Liu, Zhimei, et al.
Publicado: (2022)

Deficiency of intellectual disability-related gene Brpf1 reduced inhibitory neurotransmission in MGE-derived GABAergic interneurons
por: Cao, Jingli, et al.
Publicado: (2021)

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
por: Wang, Kun, et al.
Publicado: (2018)

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia
por: Klein, Christopher J, et al.
Publicado: (2013)

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
por: Liu, Yo-Tsen, et al.
Publicado: (2014)

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis
por: Fratta, Pietro, et al.
Publicado: (2014)

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
por: Tucci, Arianna, et al.
Publicado: (2014)

Genetic neurological channelopathies: molecular genetics and clinical phenotypes
por: Spillane, J, et al.
Publicado: (2016)

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series
por: Lynch, David S, et al.
Publicado: (2016)

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
por: Fridman, V, et al.
Publicado: (2015)

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
por: Legati, Andrea, et al.
Publicado: (2017)

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation
por: Pozzi, Laura, et al.
Publicado: (2017)

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
por: Juneja, Manisha, et al.
Publicado: (2019)

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial
por: Ohsawa, Yutaka, et al.
Publicado: (2019)

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
por: Lynch, David S, et al.
Publicado: (2019)

Integrative network and brain expression analysis reveals mechanistic modules in ataxia
por: Eidhof, Ilse, et al.
Publicado: (2019)

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan
por: Yoshimura, Akiko, et al.
Publicado: (2019)

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
por: Chelban, Viorica, et al.
Publicado: (2017)

Intermediate C9orf72 alleles in neurological disorders: does size really matter?
por: Ng, Adeline S L, et al.
Publicado: (2017)

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
por: Ververis, Antonis, et al.
Publicado: (2020)

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
por: Verdura, Edgard, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_kr2ljegv17vesgd7inf1rm5nk7