Eyelid Myoclonic Status Epilepticus: A Rare Phenotype in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Associated with ASAH1 Gene Mutation

Highlights • SMA-PME is a rare disease associated with mutations of ASAH1 gene. • This is the first case of SMA-PME syndrome associated with eyelid myoclonic SE. • Our findings have widened the classic clinical features of SMA-PME.

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Bibliographische Detailangaben
Veröffentlicht in:	Seizure (London, England) England), 2016-11, Vol.42, p.49-51
Hauptverfasser:	OGUZ AKARSU, Emel, TEKTURK, Pınar, YAPICI, Zuhal, TEPGEC, Fatih, UYGUNER, Z. Oya, BAYKAN, Betul
Format:	Artikel
Sprache:	eng
Schlagworte:	Acid Ceramidase - genetics Brain - diagnostic imaging Brain - physiopathology Child Eyelids - physiopathology Female Humans Muscular Atrophy, Spinal - complications Muscular Atrophy, Spinal - diagnostic imaging Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - physiopathology Mutation Myoclonic Epilepsies, Progressive - complications Myoclonic Epilepsies, Progressive - diagnostic imaging Myoclonic Epilepsies, Progressive - genetics Myoclonic Epilepsies, Progressive - physiopathology Neurology Phenotype Status Epilepticus - complications Status Epilepticus - diagnostic imaging Status Epilepticus - genetics Status Epilepticus - physiopathology
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Beschreibung
Zusammenfassung:	Highlights • SMA-PME is a rare disease associated with mutations of ASAH1 gene. • This is the first case of SMA-PME syndrome associated with eyelid myoclonic SE. • Our findings have widened the classic clinical features of SMA-PME.
ISSN:	1059-1311 1532-2688
DOI:	10.1016/j.seizure.2016.09.007