Epilepsy Genetics Program Clinician Resources

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Olson H,  Shen Y,  Avallone J, Sheidley BR, Pinsky R, Bergin A, Berry G, Duffy F, Eksioglu Y,  Harris D,  Hisama F, Ho E,  Irons M, Jacobsen C, James P, Kothare S, Kwhaja O, Lipton J,  Loddenkemper T,  Markowitz J,  Maski K,  Megeria, J; Neilan E,  Raffalli P,  Robbins M, Roberts A,  Roe E, Rollins C, Sahin M, Sarco D,  Schonwald A, Smith S, Soul J,  Stoler J, Takeoka M, Tan WH,  Torres A, Tsai P,  Urion D,  Weissman L, Wolff R, Wu BL, Miller D, Poduri A. (2014). “Copy number variation plays an important role in clinical epilepsy.” Annals of Neurology. 2014 Jun; 75(6):943-58.

Poduri A, Sheidley BR, Shostak S, Ottman R (2014). "Genetic testing in the epilepsies-developments and dilemmas." Nat Rev Neurol. 2014 May; 10(5):293-9.

Olson, H. E., M. Lechpammer, et al. (2013). "Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis." Epilepsia 54(10): 1753-1760.

Shain, C., S. Ramgopal, et al. (2013). "Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project." Epilepsia 54(8): 1368-1375.

Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. (2013). “SLC25A22 is a novel gene for migrating partial seizures in infancy.” Annals of Neurology. 2013 Dec; 74(6): 873-82.

Poduri, A., G. D. Evrony, et al. (2013). "Somatic mutation, genomic variation, and neurological disease." Science 341(6141): 1237758.

Olson HE, Poduri A. "CDKL5 mutations in early onset epilepsy: Case report and review of the literature." Journal of Pediatric Epilepsy. 2012. 1:151-159.

Poduri, A. (2012). "Expect the unexpected in epilepsy genetics: mutations in an epilepsy gene considered to be benign result in a severe phenotype." Annals of Neurology. 71(1): 1-2.

Poduri A, Chopra SS, Neilan EG, Christina Elhosary P, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stodberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. (2012) "Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy." Epilepsia. 2012 Aug;53(8):e146-50.

Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. "Somatic activation of AKT3 causes hemispheric developmental brain malformations." Neuron. 2012 Apr 12; 74(1):41-48.

Sheidley BR, Poduri A. (2012) "Genetics in clinical epilepsy: Issues in genetic testing and counseling." Journal of Pediatric Epilepsy. 2012 Jul 27; 1:135-142.

Poduri, A, Lowenstein, D. (2011). "Epilepsy genetics--past, present, and future." Curr Opin Genet Dev. 21(3): 325-332.


 

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