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Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Brain. 2013 Apr;136(Pt 4):1155-60. doi: 10.1093/brain/awt068. Epub 2013 Mar 21. Brain. 2013. PMID: 23518707
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurogenetics. 2009 Feb;10(1):73-7. doi: 10.1007/s10048-008-0153-1. Epub 2008 Oct 11. Neurogenetics. 2009. PMID: 18850119
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurology. 2006 Dec 12;67(11):2029-31. doi: 10.1212/01.wnl.0000250254.67042.1b. Neurology. 2006. PMID: 17159113
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurogenetics. 2006 Nov;7(4):265-8. doi: 10.1007/s10048-006-0057-x. Epub 2006 Aug 24. Neurogenetics. 2006. PMID: 16932951
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller JC, Illig T, Wichmann HE, Lichtner P, Meitinger T, Strom TM, Zimprich A, Zimprich F. Schlachter K, et al. Among authors: zimprich a, zimprich f. Neurology. 2009 Mar 17;72(11):974-8. doi: 10.1212/01.wnl.0000344401.02915.00. Neurology. 2009. PMID: 19289736
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom TM, Meitinger T, Wagner M, Zimprich F. Krenn M, et al. Among authors: zimprich a, zimprich f. Eur J Neurol. 2020 Jan;27(1):51-61. doi: 10.1111/ene.14033. Epub 2019 Aug 13. Eur J Neurol. 2020. PMID: 31407473 Free PMC article.
174 results