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Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy [PDF]
BMC NeurologyBackground Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various ...
Ramtin Naderian +3 more
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Progressive myoclonic epilepsy with Fanconi syndrome [PDF]
JRSM Open, 2016 This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
Eleanor G Seaby +5 more
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Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants [PDF]
HeliyonWe report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy.
Xiaojing Yin +7 more
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Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy [PDF]
eNeurologicalSci, 2023 Apisit Boongird +2 more
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Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review
Epilepsy and Behavior Case Reports, 2014 Purpose: Progressive myoclonic epilepsy type one is a neurodegenerative disorder characterized by action- and stimulus-sensitive myoclonus, tonic–clonic seizures, progressive cerebellar ataxia, preserved cognition, and poor outcome.
Mohammed Saadah +7 more
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Epilepsy & Behavior Reports, 2021 We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years.
Kazuhiro Haginoya +11 more
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Annals of Indian Academy of Neurology, 2016 Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in ...
Chandra Mohan Sharma +3 more
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Spinal Muscular Atrophy With Myoclonic Epilepsy
Archives of Epilepsy, 2017 Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Buket ÖZKARA, Faik BUDAK
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Myoclonic epilepsy of late onset in trisomy 21 Epilepsia mioclônica de início tardio na trissomia 21
Arquivos de Neuro-Psiquiatria, 1995 We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electro-clinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia ...
Lm. Li, M.F. O'donoghue, J.W.A.S. Sander
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EFFICACY OF TOPIRAMATE AS ADD-ON THERAPY IN TWO DIFFERENT TYPES OF PROGRESSIVE MYOCLONIC EPILEPSY
Acta Medica, 2013 The present article describes two unrelated cases of progressive myoclonic epilepsy (PME) of the Lafora’s disease and Unverricht-Lundborg types who were treated with topiramate (TPM) as add-on therapy for their myoclonus.
Caner Feyzi Demir +2 more
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