Results 1 to 10 of about 438 (85)

Calpain activity is negatively regulated by a KCTD7–Cullin-3 complex via non-degradative ubiquitination [PDF]

Cell Discovery, 2023
Calpains are a class of non-lysosomal cysteine proteases that exert their regulatory functions via limited proteolysis of their substrates. Similar to the lysosomal and proteasomal systems, calpain dysregulation is implicated in the pathogenesis of ...
Shalaka Mulherkar, Kimberley Tolias, Young Ah Goo   +2 more
exaly   +3 more sources

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia [PDF]

Frontiers in Neuroscience
ObjectiveBiallelic variants in KCTD7 have been associated with progressive myoclonic epilepsy (PME), a rare autosomal recessive disorder characterized by early-onset epilepsy, cognitive decline, myoclonus, and ataxia.MethodsWhole-exome sequencing was ...
Wenlin Wu
exaly   +4 more sources

Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects [PDF]

DMM Disease Models and Mechanisms, 2022
Jeffrey Noebels, Melanie Samuel
exaly   +4 more sources

Genetic insights into progressive myoclonic epilepsies: A case study of KCTD7 mutation in an Iranian-Azeri-Turkish family [PDF]

Epilepsy & Behavior Reports
Progressive Myoclonic Epilepsies (PMEs) are a rare and heterogeneous group of epileptic disorders often with progressive neurologic deterioration. The intensity of the clinical features varies depending on the underlying genetic etiology. This study aims
Haneieh Honarmand, Mortaza Bonyadi, Mohammad Barzegar   +2 more
doaj   +2 more sources

A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature [PDF]

BMC Neurology
Background Neuronal ceroid lipofuscinosis (NCL) is a heterogeneous group of 13 rare, progressive neurodegenerative diseases of the brain and retina. CLN14 is a very rare subtype of NCL caused by pathogenic variants in the KCTD7 gene.
Safaa Zeineddin, Ghadeer Matar, Yasmin Abosaif, Mohammed Abunada, Belal Aldabbour   +4 more
doaj   +2 more sources

Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy. [PDF]

CNS Neurosci Ther
This review comprehensively examined the pathogenic genes associated with various NCL subtypes, elucidating their roles, clinical presentations, corresponding mouse models, and the advances in clinical study of potential therapeutics. In particular, we clarified the potential of novel microglial cell replacement therapies in NCLs, providing hope for ...
Zhang Y, Du B, Zou M, Peng B, Rao Y.
europepmc   +2 more sources

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity [PDF]

Frontiers in Neurology, 2022
ObjectiveTo determine the contribution of genetic etiologies in epilepsy with photosensitivity.MethodsA total of 35 epileptic patients with genetic photosensitivity from January 2019 to May 2021 were analyzed.ResultsPathogenic variants were identified in
Yue Niu, Pan Gong, Xianru Jiao, Zhao Xu, Yuehua Zhang, Zhixian Yang   +5 more
doaj   +2 more sources

Real-world outcomes of responsive neurostimulation in patients with Lennox-Gastaut syndrome: A multicenter retrospective study. [PDF]

Epilepsia Open
Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Swartwood SM, Bollo RJ, Chu CJ, Geffrey AL, Richardson RM, Nariai H, Fallah A, Ahn S, Ghatan S, Chenevert L, La Vega-Talbott M, Espinoza AC.   +11 more
europepmc   +2 more sources

Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy. [PDF]

Int J Genomics
Background: Progressive myoclonus epilepsy (PME) is a neurodegenerative disorder marked by recurrent seizures and progressive myoclonus. To date, based on the phenotypes and causal genes, more than 40 subtypes of PMEs have been identified, and more remain to be characterized.
Chaudhari S, Acharya LP, Jasti DB, Ware AP, Gorthi SP, Satyamoorthy K.   +5 more
europepmc   +2 more sources

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies. [PDF]

Epilepsia Open
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Barcia G, Chemaly N, Gobin-Limballe S, Losito E, Aubart M, Sarda E, Assouline Z, Plante-Bordeneuve P, Hully M, Barrois R, Barnerias C, Sareidaki D, Zeitoun DC, Eisermann M, Fourrage C, Hanein S, Rio M, Boddaert N, Desguerre I, Kaminska A, Steffann J, Nabbout R.   +21 more
europepmc   +2 more sources