Results 11 to 20 of about 493 (108)

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature [PDF]

Clinical Dysmorphology, 2022
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM# 611726) is a rare autosomal recessive condition associated with pathogenic variants in KCTD7, which encodes the BTB/POZ domain-containing KCTD7 protein.
Dhanya Lakshmi Narayanan, Anju Shukla, Purvi Majethia   +2 more
exaly   +3 more sources

A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy

Egyptian Journal of Medical Human Genetics
Background Progressive myoclonic epilepsy is a clinically and genetically heterogeneous group of diseases characterized by myoclonic seizures, drug-resistant epilepsy and neurodevelopmental regression.
Reza Shervin Badv, Fakhreddin Shariatmadari, Shiva Bayat, Sara Memarian, Samaneh Esteghamat Hanzae, Hossein Yousefimanesh   +5 more
doaj   +2 more sources

Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study [PDF]

BMC Medical Genomics, 2011
Background Aortic root diameter is a clinically relevant trait due to its known relationship with the pathogenesis of aortic regurgitation and risk for aortic dissection. African Americans are an understudied population despite a particularly high burden
Devereux Richard B, Rao DC, Gu Charles C, Broeckel Ulrich, Meyers Kristin J, Patki Amit, Wineinger Nathan E, Arnett Donna K, Tiwari Hemant K   +8 more
doaj   +3 more sources

Novel co-occurrence of SLC26A4 and KCTD7 variants in a pediatric patient with syndromic hearing loss and myoclonic epilepsy

Egyptian Journal of Medical Human Genetics
Background Syndromic hearing loss and progressive myoclonic epilepsy are distinct genetic disorders with well-established genes implicated. SLC26A4 is commonly associated with hearing loss, including Pendred syndrome, while KCTD7 is linked to PME ...
Reza Shervin Badv, Mahmoud Mohammadi, Shiva Bayat   +2 more
exaly   +2 more sources

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Molecular Genetics and Metabolism Reports, 2017
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations.
Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee   +11 more
doaj   +2 more sources

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8. [PDF]

Brain Pathol
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Lindgren U, Hedberg-Oldfors C, Visuttijai K, Nordström S, Goebel H, Oldfors A.   +5 more
europepmc   +2 more sources

Genome sequence analyses identify novel risk loci for multiple system atrophy. [PDF]

Neuron
: Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here,
Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marín-Lahoz J, Kulisevsky J, Torres S, Mir P, Periñán MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sánchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chiò A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW.   +105 more
europepmc   +9 more sources

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, de Almeida Marcelino AL, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Wagle Shukla AA, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K.   +47 more
europepmc   +2 more sources

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses [PDF]

Science Advances, 2022
Chenji Wang, Yalan Wang, Hongyan Wang
exaly   +2 more sources

Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses [PDF]

Autophagy, 2023
Chenji Wang, Yalan Wang, Hongyan Wang
exaly   +2 more sources