Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
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DOI: 10.1002/ana.24929
Abstract: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. read more here.
Keywords: ataxia due; myoclonus epilepsy; kcnc1 mutation; epilepsy ataxia ... See more keywords
A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High‐Frequency Activities in Giant Somatosensory Evoked Potentials
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DOI: 10.1002/mds.28666
Abstract: Benign adult familial myoclonus epilepsy (BAFME) is one of the diseases that cause cortical myoclonus (CM) with giant somatosensory evoked potentials (SEPs). There are no useful diagnostic biomarkers differentiating BAFME from other CM diseases. read more here.
Keywords: benign adult; myoclonus epilepsy; myoclonus; familial myoclonus ... See more keywords
Current treatment options for Familial Adult Myoclonus Epilepsy.
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17590
Abstract: Familial Adult Myoclonus Epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME. Indeed, clinical management… read more here.
Keywords: familial adult; myoclonus epilepsy; adult myoclonus; myoclonus ... See more keywords
Familial Adult Myoclonus Epilepsy: clinical findings, disease course and comorbidities.
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17595
Abstract: Familial Adult Myoclonus Epilepsy (FAME) is an autosomal dominant condition characterized by the association of myoclonic tremor and epilepsy mainly with onset in adulthood. The clinical course is non-progressive or slowly progressive, as epilepsy is… read more here.
Keywords: myoclonus epilepsy; epilepsy; familial adult; adult myoclonus ... See more keywords
Familial Adult Myoclonus Epilepsy: neuroimaging and neuropathological findings.
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DOI: 10.1111/epi.17628
Abstract: Familial adult myoclonus epilepsy (FAME) is characterized by cortical myoclonus and often epileptic seizures, but the pathophysiology of this condition remains uncertain. Here, we review the neuroimaging and neuropathological findings in FAME. Imaging findings, including… read more here.
Keywords: familial adult; myoclonus epilepsy; neuropathological findings; adult myoclonus ... See more keywords
IRF2BPL as a novel causative gene for Progressive Myoclonus Epilepsy.
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DOI: 10.1111/epi.17634
Abstract: IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multi-systemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent with progressive myoclonic epilepsy (PME)… read more here.
Keywords: irf2bpl; myoclonus epilepsy; novel causative; irf2bpl novel ... See more keywords