A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy [PDF]
Clinical Case Reports, 2021 The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
Saeed Farajzadeh Valilou +5 more
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Juvenile Huntington’s disease masquerading as progressive myoclonus epilepsy [PDF]
Epilepsy & Behavior Reports, 2021 Juvenile Huntington’s disease (JHD) has an onset before 20 years of age, and is characterized by behavioural issues, epilepsy, rigidity, bradykinesia and dystonia. It contributes to 0.5–5% of all Huntington disease (HD) cases.
Bina Thakor +2 more
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In depth behavioral phenotyping unravels complex motor disturbances in Cstb−/− mouse, a model for progressive myoclonus epilepsy type 1 [PDF]
Frontiers in Behavioral Neuroscience, 2023 Progressive myoclonus epilepsy type 1 (EPM1) is an autosomal recessively inherited childhood–adolescence onset neurodegenerative disease caused by mutations in the cystatin B (CSTB gene).
Eveliina Pollari +6 more
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Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy [PDF]
Frontiers in Genetics, 2020 Action myoclonus-renal failure syndrome (AMRF) is a rare, recessively inherited form of progressive myoclonus epilepsy (PME) caused by mutations in the SCARB2 gene and associated with end-stage renal failure.
Mostafa Hotait +3 more
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KCNC1‐Related Progressive Myoclonus Epilepsy: A Case Report [PDF]
Clinical Case ReportsKCNC1‐related progressive myoclonus epilepsy (EPM7) is a rare disorder causing seizures, myoclonus, and ataxia. The first reported Iranian case highlights the role of genetic testing in diagnosis and potential future treatments, including gene therapy ...
Mehri Salari +2 more
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Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy [PDF]
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 +23 more
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Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks [PDF]
Annals of Clinical and Translational NeurologyObjective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood.
Jillian M. Cameron +3 more
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Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy [PDF]
Disease Models & Mechanisms, 2023 Sharmistha Mitra +9 more
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A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis [PDF]
BMC NeurologyBackground Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological disorder within the spectrum of stiff-person syndrome (SPS) and epilepsy, and is part of the group of GAD (glutamic acid decarboxylase) antibody-associated
Melissa Luque-Llano +6 more
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Transcriptomic and proteomic insights into progressive myoclonus epilepsy type 1 [PDF]
Disease Models & MechanismsAlina Malyutina +6 more
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