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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Poduri A, et al. Among authors: scheffer ie. Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12. Epilepsia. 2012. PMID: 22690784 Free PMC article.
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, Crossland KM, Andermann F, Berkovic SF, Scheffer IE. Singh R, et al. Among authors: scheffer ie. Epilepsia. 2001 Jul;42(7):837-44. doi: 10.1046/j.1528-1157.2001.042007837.x. Epilepsia. 2001. PMID: 11488881 Free article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: scheffer ie. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
De novo SCN1A mutations in migrating partial seizures of infancy.
Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE. Carranza Rojo D, et al. Among authors: scheffer ie. Neurology. 2011 Jul 26;77(4):380-3. doi: 10.1212/WNL.0b013e318227046d. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753172 Free PMC article.
694 results