Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: report of 3 cases and literature review

Highlights • PMEs may occur in Congenital Generalized Lipodistrophy type 2. • PMEs may be related to selected mutations in BSCL2 gene. • Early seizure onset in CGL2 patients may predict a precociously fatal course. • PAS+ osmiophilic material accumulates in fibrocytes of CGL2-PME patients.

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Bibliographic Details
Published in:Seizure (London, England) England), 2016-11, Vol.42, p.1-6
Main Authors: Opri, Roberta, Fabrizi, Gian Maria, Cantalupo, Gaetano, Ferrarini, Moreno, Simonati, Alessandro, Bernardina, Bernardo Dalla, Darra, Francesca
Format: Article
Language:English
Subjects:
Berardinelli–Seip
Brain - diagnostic imaging
Brain - physiopathology
BSCL2
Carrier Proteins - genetics
Child
Diagnosis, Differential
EEG
Fatal Outcome
Female
GTP-Binding Protein gamma Subunits - genetics
Humans
Lipodystrophy, Congenital Generalized - diagnosis
Lipodystrophy, Congenital Generalized - genetics
Lipodystrophy, Congenital Generalized - pathology
Lipodystrophy, Congenital Generalized - physiopathology
Male
Myoclonic Epilepsies, Progressive - diagnosis
Myoclonic Epilepsies, Progressive - genetics
Myoclonic Epilepsies, Progressive - pathology
Myoclonic Epilepsies, Progressive - physiopathology
Neurology
Protein Tyrosine Phosphatases, Non-Receptor - genetics
Seipin
Skin - metabolism
Skin - pathology
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Summary:Highlights • PMEs may occur in Congenital Generalized Lipodistrophy type 2. • PMEs may be related to selected mutations in BSCL2 gene. • Early seizure onset in CGL2 patients may predict a precociously fatal course. • PAS+ osmiophilic material accumulates in fibrocytes of CGL2-PME patients.
ISSN:1059-1311
1532-2688
DOI:10.1016/j.seizure.2016.08.008