Results 31 to 40 of about 493 (108)

deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect [PDF]

, 2018
International audienceOBJECTIVE:Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14).
Pratt, Marsha, Parul Jayakar, J. Marie Hardwick, Anderson, Glenn, Meadow, Michael E., Wagner, Bart E, Markello, Thomas C, Maegawa, Gustavo H. B., Hardwick, J Marie, Mordekar, Santosh R, Janet G. Markle, Gustavo H. B. Maegawa, Marsha Pratt, Metz, Kyle A, Zhang, Yu, Mordekar, Santosh R., Agrawal, Pankaj B, Tim Sen Wang, Pankaj B. Agrawal, Kim, Hee Jong, Teng, Xinchen, Glenn W. Anderson, Wohlschlegel, James A., Markle, Janet, Garnica, Adolfo, Markle, Janet G, Peariso, Katrina, Santosh R. Mordekar, Jayakar, Parul, Mcknight, Dianalee, Min Tsui Ong, Weimin Bi, James A. Wohlschlegel, Lamb, Heather M., Lamb, Heather M, Chen, Xianghui, Jill A. Rosenfeld, Thomas A. Burrow, Michael J. Parker, Hardwick, J. Marie, Wang, Tim Sen, Burrow, Thomas A., Adam L. Hartman, Danylchuk, Noelle R, Heather M. Lamb, Burrow, Thomas A, Katrina Peariso, Leshinsky‐silver, Esther, Stanley, Christine, Esther Leshinsky‐Silver, Yaping Yang, Noelle R. Danylchuk, Tobias Loddenkemper, Isabelle Coppens, Crooks, Daniel, Bi, Weimin, Anderson, Glenn W., Rosenfeld, Jill A., Yu Zhang, Nawal Makhseed, Hartman, Adam L, Parker, Michael J., Gbedawo, Hatha, Alber, Michael, Makhseed, Nawal, Hartman, Adam L., Rosenfeld, Jill A, Agrawal, Pankaj B., Hee Jong Kim, Michael E. Meadow, Aouacheria, Abdel, Wohlschlegel, James A, Dianalee McKnight, Edda D. Haberlandt, Markello, Thomas C., Metz, Kyle A., Thomas C. Markello, Loddenkemper, Tobias, Haberlandt, Edda D., Daniel Crooks, Abdel Aouacheria, Prehl, Isabelle, Xianghui Chen, Berry, Gerard T, Gerard T. Berry, Meadow, Michael E, Christine Stanley, Danylchuk, Noelle R., Maegawa, Gustavo, Bart E. Wagner, Agadi, Satish, Berry, Gerard T., Satish Agadi, Michael Alber, Haberlandt, Edda D, Haberlandt, Edda, Anderson, Glenn W, Ong, Min Tsui, Parker, Michael J, Metz, Kyle, Isabelle Prehl, Adolfo Garnica, Markle, Janet G., Maegawa, Gustavo HB, Yang, Yaping, Xinchen Teng, Wagner, Bart E., Yang, Yapin, Hatha Gbedawo, Coppens, Isabelle, Wang, Timothy S., Leshinsky-Silver, Esther, Kyle A. Metz   +112 more
core   +1 more source

Role of alternative splicing signatures in the prognosis of glioblastoma

Cancer Medicine, 2019
Background Increasing evidence has validated the crucial role of alternative splicing (AS) in tumors. However, comprehensive investigations on the entirety of AS and their clinical value in glioblastoma (GBM) are lacking.
Zu‐cheng Xie, Hua‐yu Wu, Yi‐wu Dang, Gang Chen   +3 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

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Movement Disorders, Volume 40, Issue 11, Page 2469-2475, November 2025.
Abstract Background Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early‐onset myoclonus, epilepsy, generalized tonic–clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and ...
Fulya Akçimen, Pilar Alvarez Jerez, Ulviyya Guliyeva, Jasmine Lee, Laksh Malik, Breeana Baker, Kamran Salayev, Sughra Guliyeva, Kimberley J. Billingsley, Henry Houlden, Andrew B. Singleton, Cornelis Blauwendraat, Sara Bandres‐Ciga, Rauan Kaiyrzhanov   +13 more
wiley   +1 more source

KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders. [PDF]

, 2019
International audienceThe underlying molecular basis for neurodevelopmental or neuropsychiatric disorders is not known. In contrast, mechanistic understanding of other brain disorders including neurodegeneration has advanced considerably.
Hardwick, J. Marie, Metz, Kyle A., Lionnard, Loïc, Lucian Soane, Xinchen Teng, Soane, Lucian, Kamiya, Atsushi, Atsushi Kamiya, Abdel Aouacheria, Teng, Xinchen, Kyle A. Metz, Aouacheria, Abdel, J. Marie Hardwick, Loïc Lionnard   +13 more
core   +1 more source

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

, 2018
Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called "Neuronal Ceroid Lipofuscinosis 14" (characterised by myoclonic seizures, cognitive regression, optic atrophy ...
Santorelli, Filippo Maria, Brinciotti, Mario, Doccini, Stefano, Mastrangelo M, Mastrangelo, Mario, Sartori S, Santorelli FM, Pezzini F, Nosadini M, Nosadini, Margherita, Doccini S, Brinciotti M, Moro F, MORO, EMILIA FRANCESCA, Simonati, Alessandro, Moro, Francesca, Simonati A, Sartori, Stefano, Leuzzi V., Leuzzi, Vincenzo, Pezzini, Francesco   +20 more
core   +1 more source

Genetic profiles of multiple system atrophy revealed by exome sequencing, long‐read sequencing and spinocerebellar ataxia repeat expansion analysis

European Journal of Neurology, Volume 31, Issue 12, December 2024.
Abstract Background and Purpose Multiple system atrophy (MSA) is a progressive, adult‐onset neurodegenerative disorder clinically characterized by combinations of autonomic failure, parkinsonism, cerebellar ataxia and pyramidal signs. Although a few genetic factors have been reported to contribute to the disease, its mutational profiles have not been ...
Xu‐Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wang   +9 more
wiley   +1 more source

Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis

Animal Genetics, Volume 55, Issue 4, Page 588-598, August 2024.
Abstract Neuronal ceroid lipofuscinoses (NCL) are among the most prevalent neurodegenerative disorders of early life in humans. Disease‐causing variants have been described for 13 different NCL genes. In this study, a refined pathological characterization of a female rabbit with progressive neurological signs reminiscent of NCL was performed ...
Matthias Christen, Katharina M. Gregor, Ariane Böttcher‐Künneke, Mara S. Lombardo, Wolfgang Baumgärtner, Vidhya Jagannathan, Christina Puff, Tosso Leeb   +7 more
wiley   +1 more source