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Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.

著者 Addis L , Sproviero W , Thomas SV , Caraballo RH , Newhouse SJ , Gomez K , Hughes E , Kinali M , McCormick D , Hannan S , Cossu S , Taylor J , Akman CI , Wolf SM , Mandelbaum DE , Gupta R , van der Spek RA , Pruna D , Pal DK
J Med Genet.2018 May 22 ; ():.
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Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in accounting for >5% of cases.
PMID: 29789371 [PubMed - as supplied by publisher]
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