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2014 ; 11
(4
): 796-806
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Epileptic encephalopathies: new genes and new pathways
#MMPMID25266964
Nieh SE
; Sherr EH
Neurotherapeutics
2014[Oct]; 11
(4
): 796-806
PMID25266964
show ga
Epileptic encephalopathies represent a group of devastating epileptic disorders
that occur early in life and are often characterized by pharmaco-resistant
epilepsy, persistent severe electroencephalographic abnormalities, and cognitive
dysfunction or decline. Next generation sequencing technologies have increased
the speed of gene discovery tremendously. Whereas ion channel genes were long
considered to be the only significant group of genes implicated in the genetic
epilepsies, a growing number of non-ion-channel genes are now being identified.
As a subgroup of the genetically mediated epilepsies, epileptic encephalopathies
are complex and heterogeneous disorders, making diagnosis and treatment decisions
difficult. Recent exome sequencing data suggest that mutations causing epileptic
encephalopathies are often sporadic, typically resulting from de novo dominant
mutations in a single autosomal gene, although inherited autosomal recessive and
X-linked forms also exist. In this review we provide a summary of the key
features of several early- and mid-childhood onset epileptic encephalopathies
including Ohtahara syndrome, Dravet syndrome, Infantile spasms and Lennox Gastaut
syndrome. We review the recent next generation sequencing findings that may
impact treatment choices. We also describe the use of conventional and newer
anti-epileptic and hormonal medications in the various syndromes based on their
genetic profile. At a biological level, developments in cellular reprogramming
and genome editing represent a new direction in modeling these pediatric
epilepsies and could be used in the development of novel and repurposed
therapies.
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