Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04780-0
Abstract: We have read the report of congenital generalized lipodystrophy (CGL) type 2 by Ferranti et al. [1] with interest. The authors report the case of two sisters with progressive myoclonic epilepsy (PME) associated to type… read more here.
Keywords: progressive myoclonic; myoclonic epilepsy; seip syndrome; berardinelli seip ... See more keywords
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000018121
Abstract: Abstract Rationale: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare. Patient Concerns and Diagnoses: One child with BSCL2 mutation and CGL accompanied… read more here.
Keywords: progressive myoclonic; generalized lipodystrophy; child; epilepsy ... See more keywords
Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy
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DOI: 10.1097/wnp.0000000000000913
Abstract: Summary: Myoclonus can be epileptic or nonepileptic. Epileptic myoclonus has been defined in clinical, neurophysiological, and neuroanatomical terms. Juvenile myoclonic epilepsy (JME) is typically considered to be an adolescent-onset idiopathic generalized epilepsy with a combination… read more here.
Keywords: jme; myoclonic epilepsy; progressive myoclonic; neurophysiology juvenile ... See more keywords
Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology
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DOI: 10.1136/bcr-2017-222304
Abstract: Gaucher’s disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease’s incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old… read more here.
Keywords: progressive myoclonic; palsy rare; epilepsy horizontal; myoclonic epilepsy ... See more keywords