Cargando…

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

BACKGROUND: Paroxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement, inherited as an autosomal dominant trait with incomplete penetrance. A PKC locus has been previously mapped to the pericentromeric region of chromosome 16 (16p11.2-q12.1)...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Jingyun, Zhu, Xilin, Wang, Xin, Sun, Wei, Feng, Bing, Du, Te, Sun, Bei, Niu, Fenghe, Wei, Hua, Wu, Xiaopan, Dong, Lei, Li, Liping, Cai, Xingqiu, Wang, Yuping, Liu, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Group 2011
Materias:	New Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261727/ https://www.ncbi.nlm.nih.gov/pubmed/22131361 http://dx.doi.org/10.1136/jmedgenet-2011-100635

Ejemplares similares

Paroxysmal Non-Kinesigenic Choreoathetosis Case Report and a Review of the Pathogenesis
por: Kara, Ramiz H, et al.
Publicado: (2022)

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
por: Wang, Jun-Ling, et al.
Publicado: (2011)

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
por: Zhang, Xin, et al.
Publicado: (2012)

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
por: Zong, Liang, et al.
Publicado: (2015)

Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation
por: Chou, I-Ching, et al.
Publicado: (2014)

PRRT2 Gene Mutations in Indian Paroxysmal Kinesigenic Dyskinesia Patients
por: Prabhakara, S., et al.
Publicado: (2021)

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
por: Xing, Guangqian, et al.
Publicado: (2017)

Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia
por: Li, Lei, et al.
Publicado: (2020)

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum
por: Tan, Guo-He, et al.
Publicado: (2018)

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head
por: Mah, Wayne, et al.
Publicado: (2016)

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
por: Hedera, Peter, et al.
Publicado: (2012)

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort
por: Lee, Yi-Chung, et al.
Publicado: (2012)

Mutations in TMEM231 cause Meckel–Gruber syndrome
por: Shaheen, Ranad, et al.
Publicado: (2013)

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
por: Onoufriadis, Alexandros, et al.
Publicado: (2014)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
por: Hollstein, Ronja, et al.
Publicado: (2015)

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
por: Perrault, Isabelle, et al.
Publicado: (2015)

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
por: Hunt, David, et al.
Publicado: (2014)

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
por: Watson, Christopher M, et al.
Publicado: (2016)

Mutations in HECW2 are associated with intellectual disability and epilepsy
por: Halvardson, Jonatan, et al.
Publicado: (2016)

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
por: Andreoletti, Gaia, et al.
Publicado: (2017)

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis
por: Frosk, Patrick, et al.
Publicado: (2017)

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis
por: Yang, Xiaoling, et al.
Publicado: (2013)

Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient
por: Prabhakara, S., et al.
Publicado: (2014)

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling
por: Li, Ming, et al.
Publicado: (2015)

Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports
por: Fang, Jiajia, et al.
Publicado: (2020)

Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia
por: Ekmen, Asya, et al.
Publicado: (2023)

Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation
por: Deng, Yaxian, et al.
Publicado: (2022)

A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion
por: Baldi, Salem, et al.
Publicado: (2020)

SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia
por: Guo, Hui, et al.
Publicado: (2014)

Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family
por: Ji, Zhisong, et al.
Publicado: (2014)

Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine
por: Pan, Gang, et al.
Publicado: (2019)

Paroxysmal Kinesigenic Dyskinesia
por: Paucar, Martin, et al.
Publicado: (2017)

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures
por: Lu, Jacqueline G., et al.
Publicado: (2018)

Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families
por: He, Jialinzi, et al.
Publicado: (2021)

Clinical application of exome sequencing in undiagnosed genetic conditions
por: Need, Anna C, et al.
Publicado: (2012)

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
por: Kerstjens-Frederikse, Wilhelmina S, et al.
Publicado: (2013)

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
por: Flex, Elisabetta, et al.
Publicado: (2013)

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
por: de Lange, Iris M, et al.
Publicado: (2016)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
por: Hamilton, Mark J, et al.
Publicado: (2018)

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
por: Nguyen, Thanh-Minh T, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_tl98io5itbbb561gcshjfk269m