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81 results for Myoclonic+Epilepsies,+Progressive+-+genetics

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Author / Creator:Muona, Mikko ; Berkovic, Samuel F ; Dibbens, Leanne M ; Oliver, Karen L ; Maljevic, Snezana ; Bayly, Marta A ; Joensuu, Tarja ; Canafoglia, Laura ; Franceschetti, Silvana ; Michelucci, Roberto ; Markkinen, Salla ; Heron, Sarah E ; Hildebrand, Michael S ; Andermann, Eva ; Andermann, Frederick ; Gambardella, Antonio ; Tinuper, Paolo ; Licchetta, Laura ; Scheffer, Ingrid E ; Criscuolo, Chiara ; Filla, Alessandro ; Ferlazzo, Edoardo ; Ahmad, Jamil ; Ahmad, Adeel ; Baykan, Betul ; Said, Edith ; Topcu, Meral ; Riguzzi, Patrizia ; King, Mary D ; Ozkara, Cigdem ; Andrade, Danielle M ; Engelsen, Bernt A ; Crespel, Arielle ; Lindenau, Matthias ; Lohmann, Ebba ; Saletti, Veronica ; Massano, João ; Privitera, Michael ; Espay, Alberto J ; Kauffmann, Birgit ; Duchowny, Michael ; Møller, Rikke S ; Straussberg, Rachel ; Afawi, Zaid ; Ben-Zeev, Bruria ; Samocha, Kaitlin E ; Daly, Mark J ; Petrou, Steven ; Lerche, Holger ; Palotie, Aarno ; Lehesjoki, Anna-Elina
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-01, Vol.47 (1), p.39-46
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A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing
Author / Creator:Mizuguchi, Takeshi ; Suzuki, Takeshi ; Abe, Chihiro ; Umemura, Ayako ; Tokunaga, Katsushi ; Kawai, Yosuke ; Nakamura, Minoru ; Nagasaki, Masao ; Kinoshita, Kengo ; Okamura, Yasunobu ; Miyatake, Satoko ; Miyake, Noriko ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-05, Vol.64 (5), p.359-368
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Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age
Author / Creator:Lahuerta, Marcos ; Gonzalez, Daymé ; Aguado, Carmen ; Fathinajafabadi, Alihamze ; García-Giménez, José Luis ; Moreno-Estellés, Mireia ; Romá-Mateo, Carlos ; Knecht, Erwin ; Pallardó, Federico V. ; Sanz, Pascual
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2020-03, Vol.57 (3), p.1607-1621
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CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
Author / Creator:Gumusgoz, Emrah ; Kasiri, Sahba ; Verma, Mayank ; Wu, Jun ; Villarreal Acha, Daniel ; Marriam, Ummay ; Fyffe-Maricich, Sharyl ; Lin, Amy ; Chen, Xin ; Gray, Steven J. ; Minassian, Berge A.
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2024-05, Vol.31 (5-6), p.234-241
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Treatment with metformin in twelve patients with Lafora disease
Author / Creator:Bisulli, Francesca ; Muccioli, Lorenzo ; d’Orsi, Giuseppe ; Canafoglia, Laura ; Freri, Elena ; Licchetta, Laura ; Mostacci, Barbara ; Riguzzi, Patrizia ; Pondrelli, Federica ; Avolio, Carlo ; Martino, Tommaso ; Michelucci, Roberto ; Tinuper, Paolo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.149-149, Article 149
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Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects
Author / Creator:Liang, Justine H. ; Alevy, Jonathan ; Akhanov, Viktor ; Seo, Ryan ; Massey, Cory A. ; Jiang, Danye ; Zhou, Joy ; Sillitoe, Roy V. ; Noebels, Jeffrey L. ; Samuel, Melanie A.
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2022-09, Vol.15 (9)
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Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy
Author / Creator:Naderian, Ramtin ; Vafaeian, Farzane ; Hoseini, Seyyed Mohamad ; Sanami, Samira
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2025-05, Vol.25 (1), p.230-6
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Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea
Author / Creator:Harisankar, Karthik ; Singh, Jagdeep ; Mehta, Sahil ; Lal, Vivek
Publisher:London: BMJ Publishing Group LTD
Journal title:Practical neurology, 2025-02, p.pn-2024-004213
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Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
Author / Creator:Zimmern, Vincent ; Minassian, Berge
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-01, Vol.15 (2), p.171
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A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature
Author / Creator:Li, Qian ; Liu, Min ; Huang, Dan-ping ; Li, Tao ; Huang, Jing ; Jiang, Ping ; Ling, Wei-hao ; Chen, Xu-qin
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2021-09, Vol.71 (9), p.1944-1950
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Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report
Author / Creator:Liang, Tao ; Wu, Jing ; Chen, Hongxing ; Qian, Jun ; Xu, Zhongxiang
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2022-05, Vol.43 (5), p.3467-3471
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Dentatorubral-pallidoluysian atrophy: a case report and review of literature
Author / Creator:Chen, Xin ; Xiang, Wenwen ; Xu, Lijun ; Zhao, Jiahao ; Yu, Ye ; Ke, Qing ; Liu, Zhipeng ; Gan, Li
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2024-09, Vol.18 (1), p.429-9, Article 429
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Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
Author / Creator:Sánchez-Iglesias, Sofía ; Fernández-Pombo, Antía ; Araújo-Vilar, David
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2021-04, Vol.42 (4), p.1597-1598
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A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure
Author / Creator:Yari, Abolfazl ; Ali-Nejad, Reza Molla ; Saleh-Gohari, Nasrollah
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2021-12, Vol.42 (12), p.5077-5085
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Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review
Author / Creator:Atasu, Burcu ; Acarlı, Ayse Nur Ozdag ; Bilgic, Basar ; Baykan, Betül ; Demir, Erol ; Ozluk, Yasemin ; Turkmen, Aydin ; Hauser, Ann-Kathrin ; Guven, Gamze ; Hanagasi, Hasmet ; Gurvit, Hakan ; Emre, Murat ; Gasser, Thomas ; Lohmann, Ebba
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2022-03, Vol.22 (1), p.122-122, Article 122
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Brain inflammation is accompanied by peripheral inflammation in Cstb −/− mice, a model for progressive myoclonus epilepsy
Author / Creator:Okuneva, Olesya ; Li, Zhilin ; Körber, Inken ; Tegelberg, Saara ; Joensuu, Tarja ; Tian, Li ; Lehesjoki, Anna-Elina
Publisher:England: BioMed Central Ltd
Journal title:Journal of neuroinflammation, 2016-11, Vol.13 (1), p.298-298, Article 298
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Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Author / Creator:Kousi, Maria ; Anttila, Verneri ; Schulz, Angela ; Calafato, Stella ; Jakkula, Eveliina ; Riesch, Erik ; Myllykangas, Liisa ; Kalimo, Hannu ; Topçu, Meral ; Gökben, Sarenur ; Alehan, Fusun ; Lemke, Johannes R ; Alber, Michael ; Palotie, Aarno ; Kopra, Outi ; Lehesjoki, Anna-Elina
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-06, Vol.49 (6), p.391-399
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Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
Author / Creator:Hentrich, Lea ; Parnes, Mered ; Lotze, Timothy Edward ; Coorg, Rohini ; de Koning, Tom J. ; Nguyen, Kha M. ; Yip, Calvin K. ; Jungbluth, Heinz ; Koy, Anne ; Dafsari, Hormos Salimi
Publisher:Basel: MDPI AG
Journal title:Genes, 2023-09, Vol.14 (10), p.1860
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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
Author / Creator:Najafi, Ali ; Tasharrofi, Behnoosh ; Zandsalimi, Farshid ; Rasulinezhad, Maryam ; Ghahvechi Akbari, Masood ; Zamani, Gholamreza ; Ashrafi, Mahmoud Reza ; Heidari, Morteza
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2023-06, Vol.49 (1), p.64-64, Article 64
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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
Author / Creator:Cameron, Jillian M. ; Maljevic, Snezana ; Nair, Umesh ; Aung, Ye Htet ; Cogné, Benjamin ; Bézieau, Stéphane ; Blair, Edward ; Isidor, Bertrand ; Zweier, Christiane ; Reis, André ; Koenig, Mary Kay ; Maarup, Timothy ; Sarco, Dean ; Afenjar, Alexandra ; Huq, A. H. M. Mahbubul ; Kukolich, Mary ; Billette de Villemeur, Thierry ; Nava, Caroline ; Héron, Bénédicte ; Petrou, Steven ; Berkovic, Samuel F.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1263-1272
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Showing 1 to 20 of 81 results

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

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Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age

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CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy

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Treatment with metformin in twelve patients with Lafora disease

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

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Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy

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Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea

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Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

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A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature

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Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report

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Dentatorubral-pallidoluysian atrophy: a case report and review of literature

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Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

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A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure

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Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

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Brain inflammation is accompanied by peripheral inflammation in Cstb −/− mice, a model for progressive myoclonus epilepsy

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Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

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Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy

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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

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