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Epilepsia|April 19, 2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyAilsa McLellan, Hilary A Phillips, Christopher Rittey, et al.Nature Genetics|June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseaseMark I Rees, Kirsten Harvey, Brian R Pearce, et al.Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.Pageof 2