Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation

Seizure. 2016 Nov:42:49-51. doi: 10.1016/j.seizure.2016.09.007. Epub 2016 Sep 23.

Authors

Emel Oguz Akarsu¹, Pınar Tekturk², Zuhal Yapici², Fatih Tepgec³, Z Oya Uyguner³, Betul Baykan²

Affiliations

¹ Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey. Electronic address: emeloguz@yahoo.com.
² Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey.
³ Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey.

PMID: 27723502
DOI: 10.1016/j.seizure.2016.09.007

No abstract available

Publication types

Case Reports

MeSH terms

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
Phenotype
Status Epilepticus / complications
Status Epilepticus / diagnostic imaging
Status Epilepticus / genetics*
Status Epilepticus / physiopathology
Video Recording

Substances

ASAH1 protein, human
Acid Ceramidase