| 1 | ARX, CDKL5, EIEE1, EIEE2, ISSX
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| CDKL5 and ARX mutations in males with early-onset epilepsy.
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| Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
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| Pediatr Neurol 48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].
2013
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| 2 | ARX, ISSX
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| Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
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| Olivetti PR, Noebels JL.
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| Curr Opin Neurobiol 22(5):859-65. doi: 10.1016/j.conb.2012.04.006. Epub 2012 May 5. Review.
2012
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| 3 | CDKL5, EIEE2, ISSX
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| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
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| Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P.
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| Genet Med 13(5):447-52.
2011
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| 4 | CDKL5, ISSX
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| CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.
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| Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala JN, Morales-Jeanhs EA, García-Ortiz JE, León-Gil A, Rivera H, Domínguez MG, Kalscheuer VM.
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| Clin Genet 77(1):92-6. Epub 2009 Oct 5. No abstract available.
2010
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| 5 | CDKL5, EIEE2, ISSX
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| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
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| Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.
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| Epilepsia 51(4):647-54. Epub 2009 Sep 22.
2010
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| 6 | ARX, ISSX
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| A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.
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| Reish O, Fullston T, Regev M, Heyman E, Gecz J.
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| Am J Med Genet A 149A(8):1655-60.PMID: 19606478 2009
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| 7 | CDKL5, EIEE2, ISSX
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| Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
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| Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.
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| Clin Genet 76(4):357-71. Review.PMID: 19793311 2009
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| 8 | CDKL5, ISSX
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| Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
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| Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T.
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| Neurology 73(1):77-8; author reply 78. No abstract available. PMID: 19564592 2009
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| 9 | CDKL5, ISSX
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| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
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| Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.
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| Neurogenetics 10(3):241-50. Epub 2009 Feb 25.PMID: 19241098 2009
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| 10 | CDKL5, ISSX
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| CDKL5 disruption by t(X;18) in a girl with West syndrome.
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| Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuchi Y, Matsumoto N.
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| Clin Genet 74(3):288-90. Epub 2008 Jun 28. No abstract available.
2008
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| 11 | ARX, ISSX, MRX54, PRTS
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| Identification of Arx transcriptional targets in the developing basal forebrain.
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| Fulp CT, Cho G, Marsh ED, Nasrallah IM, Labosky PA, Golden JA.
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| Hum Mol Genet 17(23):3740-60. Epub 2008 Sep 16.
2008
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| 12 | CDKL5, EIEE2, ISSX
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| CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
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| Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.
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| Neurology 71(13):997-9.
2008
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| 13 | CDKL5, EIEE2, ISSX
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| Key clinical features to identify girls with CDKL5 mutations.
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| Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T.
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| Brain 131(Pt 10):2647-61. Epub 2008 Sep 12.
2008
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| 14 | ARX, ISSX
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| A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome).
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| Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.
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| Am J Hum Genet 81(2):361-6. Epub 2007 Jun 11. 2007
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| 15 | ARX,IPO13,ISSX,MRX54,PRTS
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| Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
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| Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gecz J.
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| Genomics 90(1):59-71. Epub 2007 May 9. 2007
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| 16 | CDKL5, EIEE2, ISSX
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| Myoclonic encephalopathy in the CDKL5 gene mutation.
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| Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J.
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| Clin Neurophysiol 117(1):223-7. Epub 2005 Dec 2. 2006
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| 17 | CDKL5, EIEE2, ISSX
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| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
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| Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.
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| J Med Genet 43(9):729-34. Epub 2006 Apr 12. 2006
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| 18 | CDKL5, ISSX,RTTA
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| Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
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| Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T.
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| Clin Genet 70(1):29-33. 2006
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| 19 | CDKL5, EIEE2, ISSX
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| Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
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| Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, Badaracco G, Landsberger N, Kilstrup-Nielsen C.
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| J Biol Chem 281(42):32048-56. Epub 2006 Aug 24. 2006
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| 20 | CDKL5, EIEE2, ISSX, RTT
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| CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
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| Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.
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| Hum Mol Genet 14(14):1935-46. Epub 2005 May 25. 2005
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| 21 | CDKL5, EIEE2, ISSX
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| Early onset seizures and Rett-like features associated with mutations in CDKL5.
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| Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ.
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| Eur J Hum Genet 13(10):1113-20. 2005
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| 22 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| CDKL5 and MeCP2: partners in Rett pathogenesis.
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| Warby S.
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| Clin Genet 68(6):497-500. No abstract available. 2005
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| 23 | CDKL5, EIEE2, ISSX
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| CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
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| Lin C, Franco B, Rosner MR.
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| Hum Mol Genet 14(24):3775-86. Epub 2005 Dec 5. 2005
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| 24 | CDKL5, EIEE2, ISSX
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| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
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| Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM.
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| Am J Hum Genet 75(6):1149-54. 2004
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| 25 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
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| Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J.
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| Am J Hum Genet 75(6):1079-93. Epub 2004 Oct 18. 2004
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| 26 | CDKL1, CDKL2, CDKL5, EIEE2, ISSX
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| Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
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| Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J.
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| Am J Hum Genet 72(6):1401-11. Epub 2003 May 07. 2003
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| 27 | ISSX, ARX
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| X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
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| Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC.
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| Neurology 59(3):348-56. 2002
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| 28 | ARX, ISSX
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| Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
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| Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J.
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| Brain Dev 24(5):266-8. 2002
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| 29 | ISSX
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| Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.
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| Bruyere H, et al.
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| Clin Genet 55(3):173-81. 1999
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| 30 | ISSX
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| The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
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| Claes S, Devriendt K, Lagae L, Ceulemans B, Dom L, Casaer P, Raeymaekers P, Cassiman JJ, Fryns JP.
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| Ann Neurol 42(3):360-4. 1997
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