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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A, FitzPatrick DR, Elmslie F, Lees MM, Schaefer GB; DDD study; Abbott CM. Lam WW, et al. Among authors: mclellan a. Mol Genet Genomic Med. 2016 Apr 3;4(4):465-74. doi: 10.1002/mgg3.219. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27441201 Free PMC article.
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study; Zuberi SM. Symonds JD, et al. Among authors: mclellan a. Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6. Epilepsia. 2017. PMID: 28166369 Free article.
809 results