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2015 ; 5
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Single-Gene Determinants of Epilepsy Comorbidity
#MMPMID26525453
Noebels JL
Cold Spring Harb Perspect Med
2015[Nov]; 5
(11
): ä PMID26525453
show ga
Common somatic conditions are bound to occur by chance in individuals with
neurological disorders as prevalent as epilepsy, but when biological links
underlying the comorbidity can be uncovered, the relationship may provide clues
into the origin and mechanisms of both. The expanding list of monogenic
epilepsies and their associated clinical features offer a remarkable opportunity
to mine the epilepsy genome for coordinate neurodevelopmental phenotypes and
examine their pathogenic mechanisms. Defined single-gene-linked epilepsy
syndromes identified to date include all of the most frequently cited
comorbidities, such as cognitive disorders, autism, migraine, mood disorders,
late-onset dementia, and even premature lethality. Gene-linked comorbidities may
be aggravated by, or independent of, seizure history. Mutations in these genes
establish clear biological links between abnormal neuronal synchronization and a
variety of neurobehavioral disorders, and critically substantiate the definition
of epilepsy as a complex spectrum disorder. Mapping the neural circuitry of
epilepsy comorbidities and understanding their single-gene risk should
substantially clarify this challenging aspect of clinical epilepsy management.
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