Results 11 to 20 of about 8,171 (145)

Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature [PDF]

Epilepsy & Behavior Reports, 2023
Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures.
Michał Sobstyl, Nina Kożuch, Magdalena Iwaniuk-Gugała, Angelika Stapińska-Syniec, Magdalena Konopko, Paweł Jezierski   +5 more
doaj   +4 more sources

Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review [PDF]

Frontiers in Pediatrics, 2022
Progressive myoclonic epilepsy (PME) is a group of rare diseases characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits.
Jing Duan, Yan Chen, Zhanqi Hu, Yuanzhen Ye, Tian Zhang, Cong Li, Qi Zeng, Xia Zhao, Jiahui Mai, Yang Sun, Chao Liu, Wenxin Zheng, Yuhan Xiao, Jianxiang Liao, Li Chen   +14 more
doaj   +4 more sources

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings [PDF]

Frontiers in Neurology
Background and objectivesProgressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration.
Lassana Cissé, Lassana Cissé, Salia Bamba, Salia Bamba, Seybou H. Diallo, Seybou H. Diallo, Weizhen Ji, Mohamed Emile Dembélé, Abdoulaye Yalcouyé, Abdoulaye Yalcouyé, Toumany Coulibaly, Ibrahima Traoré, Lauren Jeffries, Salimata Diarra, Salimata Diarra, Alassane Dit Baneye Maiga, Salimata Diallo, Karamoko Nimaga, Amadou Touré, Oumou Traoré, Mahamadou Kotioumbé, Emily Kathryn Mis, Cheick Abdel Kader Cissé, Cheick Oumar Guinto, Cheick Oumar Guinto, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré, Guida Landouré   +29 more
doaj   +4 more sources

Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C [PDF]

BMJ Neurology Open, 2021
Introduction Mitochondrial diseases exhibit wide phenotypic heterogeneity, and can present as progressive myoclonic epilepsy.Summary We report a case of adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies due to m ...
Anthony Khoo, Meneka Kaur Sidhu, Fion Bremner, Saadnah Naidu, Ashirwad Merve, Surapi Bhairavi Wijayendran   +5 more
doaj   +2 more sources

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy [PDF]

Annals of Clinical and Translational Neurology, 2021
We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene.
Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Mona Grimmel, Tobias B. Haack, Sarah vonSpiczak, Alexander Münchau   +7 more
doaj   +2 more sources

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation [PDF]

Epilepsy & Behavior Reports, 2021
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with
Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari   +6 more
doaj   +2 more sources

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report [PDF]

BMC Neurology
Background Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics.
Pedro Lucas G S B Lima, Paulo R Nobrega, Fernando Freua, Pedro Braga-Neto, Anderson R B Paiva, Thiago Gonçalves Guimarães, Fernando Kok   +6 more
doaj   +2 more sources

Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report [PDF]

Italian Journal of Pediatrics, 2020
Background A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrophy (PELD), which is ...
Stefania Pedicelli, Luca de Palma, Caterina Pelosini, Marco Cappa   +3 more
doaj   +2 more sources

Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy

Frontiers in Neurology, 2019
Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication.
Sarah Martin, Sarah Martin, Adam Strzelczyk, Adam Strzelczyk, Adam Strzelczyk, Silvia Lindlar, Silvia Lindlar, Kristina Krause, Kristina Krause, Philipp S. Reif, Philipp S. Reif, Katja Menzler, Katja Menzler, Andreas G. Chiocchetti, Andreas G. Chiocchetti, Felix Rosenow, Felix Rosenow, Felix Rosenow, Susanne Knake, Susanne Knake, Karl Martin Klein, Karl Martin Klein, Karl Martin Klein, Karl Martin Klein   +23 more
doaj   +3 more sources

Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS [PDF]

Annals of Clinical and Translational Neurology, 2021
Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused by a novel DHDDS variant. Additionally, by reviewing the literature on DHDDS mutations,
Seondeuk Kim, Man Jin Kim, Hyoshin Son, Sungeun Hwang, Mi‐Kyoung Kang, Kon Chu, Sang Kun Lee, Jangsup Moon   +7 more
doaj   +2 more sources