Results 41 to 50 of about 2,358 (151)

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

The Effect of CLN3 Disease on Organellar Characteristics

, 2021
CLN3 disease, or juvenile dementia, is a lysosomal storage disorder with largely neurological symptoms. Towards the end of their lives, individuals with CLN3 disease develop a cardiac phenotype, which has not yet been systematically studied. On a cellular level, mutations in CLN3 have been shown to disrupt the endo-lysosomal system.
openaire   +1 more source

CLN3 transcript complexity revealed by long-read RNA sequencing analysis

BMC Medical Genomics
Background Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common pathogenic variant shared by most patients is the “1-kb” deletion which removes two internal coding ...
Hao-Yu Zhang, Christopher Minnis, Emil Gustavsson, Mina Ryten, Sara E. Mole   +4 more
doaj   +1 more source

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. [PDF]

PLoS ONE, 2012
Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death.
John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman   +41 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling

EMBO Reports
Batten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein.
Neuza Domingues, Alessia Calcagni’, Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo   +13 more
doaj   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
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 ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Efficacy of phosphodiesterase‐4 inhibitors in juvenile Batten disease (CLN3) [PDF]

Annals of Neurology, 2016
ObjectiveJuvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death.
Aldrich, Amy, Bosch, Megan E, Fallet, Rachel, Odvody, Jessica, Burkovetskaya, Maria, Rao, Kakulavarapu V Rama, Cooper, Jonathan D, Drack, Arlene V, Kielian, Tammy   +8 more
openaire   +4 more sources

Stress‐Induced Switch in Small Extracellular Vesicle Secretion: From Constitutive ‘Torn Bag Mechanism’ to Exocytosis

Journal of Extracellular Vesicles, Volume 15, Issue 8, August 2026.
Stress‐induced switch. Under stress conditions, small extracellular vesicle release shifts from the constitutive ‘torn bag mechanism’ to exocytosis of multivesicular endosomes. https://BioRender.com/xn1pa1e. ABSTRACT The biogenesis of small extracellular vesicles (sEVs) is only partially understood.
Dorina Lenzinger, Lilla Lankovics, István Dudás, Tünde Bárkai, Zsófia Szász, Mirjam Balbisi, Anthony Yan‐Tang Wu, Krisztina V. Vukman, Kelsey Fletcher, Attila Csomos, Zoltán Mucsi, Edina Bugyik, Csaba Cserép, Ádám Dénes, Szilvia Bősze, Lilla Turiák, Charles Pin‐Kuang Lai, Edit I. Buzás, Tamás Visnovitz   +18 more
wiley   +1 more source

Loss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover

Communications Biology
Loss-of-function mutations in CLN3 cause juvenile Batten disease, featuring neurodegeneration and early-stage neuroinflammation. How loss of CLN3 function leads to early neuroinflammation is not yet understood.
Seda Yasa, Elisabeth S. Butz, Alessio Colombo, Uma Chandrachud, Luca Montore, Sarah Tschirner, Matthias Prestel, Steven D. Sheridan, Stephan A. Müller, Janos Groh, Stefan F. Lichtenthaler, Sabina Tahirovic, Susan L. Cotman   +12 more
doaj   +1 more source