U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

  • This title is an author manuscript version first made accessible on the NCBI Bookshelf website July 2, 2012.

This title is an author manuscript version first made accessible on the NCBI Bookshelf website July 2, 2012.

Cover of Jasper's Basic Mechanisms of the Epilepsies

Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition.

Show details

Table 1Main etiologies of epileptic encephalopathies

Epileptic encephalopathiesMain etiologies
Neonatal encephalopathies with suppression-bursts EEG pattern:
-

Ohtahara syndrome

-

Early myoclonic encephalopathies

Brain damages: malformations, perinatal anoxo- ischemic event.
Metabolic diseases: pyridoxine or pyridoxine- phosphate-dependent convulsions; hyperglycemia with ketosis; sulfate oxydase deficit; mitochondriopathies.
Genetic causes: ARX (♂), CG1 and STXBP1 gene.
Cryptogenic.
-

West syndrome

-

Lennox-Gastaut syndrome

Brain damages: acquired in pre-, peri- or postnatal period (60–90% of cases): malformations, vascular insult, head trauma or infection.
Metabolic diseases: mitochondriopathies, PDH deficit, Menkes disease, phenylketonuria.
Genetic causes: Down syndrome (21 trisomy); STK9 (♀>>>♂), deletion 1p36, inv-dup chromosome 15
Cryptogenic.
Epileptic encephalopathies with continuous spike-waves in slow sleep: Continuous spike-waves in slow sleep and related disorders (Landau-Kleffner syndrome, acquired frontal syndrome and acquired opercular syndrome)Brain damages: vascular insult (porencephalic cavity), leukomalacia, polymicrogyria, cortical dysplasia.

Mainly cryptogenic
Migrating partial epilepsy Cryptogenic
Dravet syndrome (severe myoclonic epilepsy of infancy)Genetic causes:
-

SCN1A (de novo mutations and inherited mutations in a familial context of GEFS+)

-

PCDH19 (♀) (de novo mutations and inherited mutations in a familial context of EFMR)

-

GABRG2 (in a familial context of GEFS+)

Myoclono-astatic epilepsy with poor outcomeGenetic causes:
-

SCN1A and GABRG2, both in a familial context of GEFS+;

Cryptogenic
Rasmussen encephalitis Immune mechanisms suspected

From: Genes in infantile epileptic encephalopathies

Copyright © 2012, Michael A Rogawski, Antonio V Delgado-Escueta, Jeffrey L Noebels, Massimo Avoli and Richard W Olsen.

All Jasper's Basic Mechanisms of the Epilepsies content, except where otherwise noted, is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported license, which permits copying, distribution and transmission of the work, provided the original work is properly cited, not used for commercial purposes, nor is altered or transformed.

Contents

Views

  • Cite this Page
  • PDF version of this page (1.8M)
  • PDF version of this title (143M)

Similar articles in PubMed

See reviews...See all...

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...