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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003. Am J Hum Genet. 2012. PMID: 22243967 Free PMC article.
Epilepsy in children with infantile thiamine deficiency.
Fattal-Valevski A, Bloch-Mimouni A, Kivity S, Heyman E, Brezner A, Strausberg R, Inbar D, Kramer U, Goldberg-Stern H. Fattal-Valevski A, et al. Neurology. 2009 Sep 15;73(11):828-33. doi: 10.1212/WNL.0b013e3181b121f5. Epub 2009 Jul 1. Neurology. 2009. PMID: 19571254
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM. Scheffer IE, et al. Neurology. 2012 Nov 20;79(21):2104-8. doi: 10.1212/WNL.0b013e3182752c6c. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077018 Free PMC article.
Thiamine deficiency in infancy: long-term follow-up.
Mimouni-Bloch A, Goldberg-Stern H, Strausberg R, Brezner A, Heyman E, Inbar D, Kivity S, Zvulunov A, Sztarkier I, Fogelman R, Fattal-Valevski A. Mimouni-Bloch A, et al. Pediatr Neurol. 2014 Sep;51(3):311-6. doi: 10.1016/j.pediatrneurol.2014.05.010. Epub 2014 May 15. Pediatr Neurol. 2014. PMID: 25160536
87 results