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

Autor: Addis, Laura, Sproviero, William, Thomas, Sanjeev V., Caraballo, Roberto H., Newhouse, Stephen J., Gomez, Kumudini, Hughes, Elaine, Kinali, Maria, McCormick, David, Hannan, Siobhan, Cossu, Silvia, Taylor, Jacqueline, Akman, Cigdem I., Wolf, Steven M., Mandelbaum, David E., Gupta, Rajesh, Van Der Spek, Rick A., Pruna, Dario, Pal, Deb K.

Publikováno v: Addis, L, Sproviero, W, Thomas, S V, Caraballo, R H, Newhouse, S J, Gomez, K, Hughes, E, Kinali, M, McCormick, D, Hannan, S, Cossu, S, Taylor, J, Akman, C I, Wolf, S M, Mandelbaum, D E, Gupta, R, Van Der Spek, R A, Pruna, D & Pal, D K 2018, ' Identification of new risk factors for rolandic epilepsy : CNV at Xp22.31 and alterations at cholinergic synapses ', Journal of Medical Genetics, vol. 55, no. 9 . https://doi.org/10.1136/jmedgenet-2018-105319

Background: 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2761::2600c4c23e40ef33fbf65636e3b643e5
https://kclpure.kcl.ac.uk/ws/files/100447860/Identification_of_new_risk_ADDIS_Accepted28April2018_GOLD_VoR_CC_BY_.pdf

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

Autor: Addis, Laura, Sproviero, William, Thomas, Sanjeev V., Caraballo, Roberto H., Newhouse, Stephen J., Gomez, Kumudini, Hughes, Elaine, Kinali, Maria, McCormick, David, Hannan, Siobhan, Cossu, Silvia, Taylor, Jacqueline, Akman, Cigdem I., Wolf, Steven M., Mandelbaum, David E., Gupta, Rajesh, van der Spek, Rick A., Pruna, Dario, Pal, Deb K.

Publikováno v: Journal of Medical Genetics; Sep2018, Vol. 55 Issue 9, p607-616, 10p

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Subjective Experiences of Children and Parents After Epilepsy Surgery.

Autor: Hannan, Siobhan

Publikováno v: LongTerm Outcomes of Epilepsy Surgery in Adults & Children; 2015, p225-231, 7p