Results 171 to 180 of about 4,015 (188)

Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene

Gene, 2014
Establishing genetic basis of Idiopathic generalized epilepsies (IGE) is challenging because of their complex inheritance pattern and genetic heterogeneity. Kir4.1 inwardly rectifying channel (KCNJ10) is one of the independent genes reported to be associated with seizure susceptibility.
Nagaraja M, Phani, Shreeshakala, Acharya, Seethu, Xavy, Nalini, Bhaskaranand, Manoj K, Bhat, Aditya, Jain, Padmalatha S, Rai, Kapaettu, Satyamoorthy, Satyamoorthy, Kapaettu   +8 more
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Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10

Brain and Development, 2019
EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management.
Ali, Mir, Mohammed, Chaudhary, Hani, Alkhaldi, Rami, Alhazmi, Raidah, Albaradie, Yousef, Housawi   +5 more
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Pathophysiologie der p.A167V-Mutation von KCNJ10

2016
KCNJ10 is an inwardly rectifying potassium channel, which is expressed in the kidney, the CNS and the inner ear. In the kidney it is found in heteromeric expression with KCNJ16, a closely related channel protein. Mutations of KCNJ10 cause a disease pattern which is characterized by epilepsy, ataxia, sensorineural deafness and a renal salt-wasting ...
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Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

Journal of Neurology, 2018
Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients.We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and ...
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno   +9 more
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Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency

Annals of Neurology
ObjectiveMost paroxysmal kinesigenic dyskinesia (PKD) cases are hereditary, yet approximately 60% of patients remain genetically undiagnosed. We undertook the present study to uncover the genetic basis for undiagnosed PKD patients.MethodsWhole‐exome sequencing was performed for 106 PRRT2‐negative PKD probands.
Yun‐Lu Li, Jingjing Lin, Xuejing Huang, Rui‐Huang Zeng, Guangyu Zhang, Jie‐Ni Xu, Kai‐Jun Lin, Xin‐Shuo Chen, Ming‐Feng He, Jing‐Da Qiao, Xuewen Cheng, Dengna Zhu, Zhi‐Qi Xiong, Wan‐Jin Chen   +13 more
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Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia

Movement Disorders
AbstractBackgroundMore than 60% of paroxysmal kinesigenic dyskinesia (PKD) cases are of uncertain variants.ObjectiveThe aim was to elucidate novel genetic contribution to PKD.MethodsA total of 476 probands with uncertain genetic causes were enrolled for whole‐exome sequencing.
Xiaojun Huang, Xin Fu, Jingying Wu, Xin Cheng, Xiaoqi Hong, Ziyi Li, Lan Zheng, Qing Liu, Shendi Chen, Beisha Tang, Yuwu Zhao, Xiaorong Liu, Xunhua Li, Xiaoli Liu, Zaiwei Zhou, Li Wu, Kan Fang, Ping Zhong, Mei Zhang, Xinghua Luan, Wotu Tian, Xiaoping Tong, Li Cao   +22 more
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Developmental expression and localization of KCNJ10 K+ channels in the guinea pig inner ear

NeuroReport, 2006
The inward rectifier Kir4.1, composed of KCNJ10 K channel subunits, plays an essential role in inner ear K homeostasis. We have investigated the developmental expression and localization of KCNJ10 (Kir4.1) in the guinea pig inner ear using semi-quantitative reverse transcription polymerase chain reaction and immunohistochemistry.
Zhe, Jin, Dongguang, Wei, Leif, Järlebark   +2 more
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Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

Epilepsy Research, 2004
Our research program uses genetic linkage and association analysis to identify human seizure sensitivity and resistance alleles. Quantitative trait loci mapping in mice led to identification of genetic variation in the potassium ion channel gene Kcnj10, implicating it as a putative seizure susceptibility gene.
R J, Buono, F W, Lohoff, T, Sander, M R, Sperling, M J, O'Connor, D J, Dlugos, S G, Ryan, G T, Golden, H, Zhao, T M, Scattergood, W H, Berrettini, T N, Ferraro   +11 more
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Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

The Cerebellum, 2018
Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome. We describe a 41-year-old patient
Nicita, Francesco, Tasca, Giorgio, Nardella, Marta, Bellacchio, Emanuele, CAMPONESCHI, ILARIA, Vasco, Gessica, Schirinzi, Tommaso, Bertini, Enrico, Zanni, Ginevra   +8 more
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Die Bedeutung des basolateralen Kalium-Kanals KCNJ10 für die Transportfunktion in der Niere

2016
2009 wurde erstmals ein neuartiges Syndrom zeitgleich von zwei Arbeitsgruppen beschrieben. Bockenhauer et al. nannten die autosomal rezessive Erbkrankheit EAST-Syndrom, wobei EAST als Akronym für die wichtigsten Leitsymptome der Erkrankung, nämlich Epilepsie, Ataxie, sensorineurale Schwerhörigkeit und eine renale Tubulopathie steht.
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