The biology of epilepsy genes.

Abstract:

:Mutations in over 70 genes now define biological pathways leading to epilepsy, an episodic dysrhythmia of the cerebral cortex marked by abnormal network synchronization. Some of the inherited errors destabilize neuronal signaling by inflicting primary disorders of membrane excitability and synaptic transmission, whereas others do so indirectly by perturbing critical control points that balance the developmental assembly of inhibitory and excitatory circuits. The genetic diversity is now sufficient to discern short- and long-range functional convergence of epileptogenic molecular pathways, reducing the broad spectrum of primary molecular defects to a few common processes regulating cortical synchronization. Synaptic inhibition appears to be the most frequent target; however, each gene mutation retains unique phenotypic features. This review selects exemplary members of several gene families to illustrate principal categories of the disease and trace the biological pathways to epileptogenesis in the developing brain.

journal_name

Annu Rev Neurosci

authors

Noebels JL

doi

10.1146/annurev.neuro.26.010302.081210

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

599-625

eissn

0147-006X

issn

1545-4126

journal_volume

26

pub_type

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