Citations for
1ARX, CDKL5, EIEE1, EIEE2, ISSX
CDKL5 and ARX mutations in males with early-onset epilepsy.
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.
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
2ARX, ISSX
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
Olivetti PR, Noebels JL.
Curr Opin Neurobiol 22(5):859-65. doi: 10.1016/j.conb.2012.04.006. Epub 2012 May 5. Review. 2012
3CDKL5, EIEE2, ISSX
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
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.
Genet Med 13(5):447-52. 2011
4CDKL5, ISSX
CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.
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.
Clin Genet 77(1):92-6. Epub 2009 Oct 5. No abstract available. 2010
5CDKL5, EIEE2, ISSX
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.
Epilepsia 51(4):647-54. Epub 2009 Sep 22. 2010
6ARX, ISSX
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.
Reish O, Fullston T, Regev M, Heyman E, Gecz J.
Am J Med Genet A 149A(8):1655-60.PMID: 19606478 2009
7CDKL5, EIEE2, ISSX
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
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.
Clin Genet 76(4):357-71. Review.PMID: 19793311 2009
8CDKL5, ISSX
Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T.
Neurology 73(1):77-8; author reply 78. No abstract available. PMID: 19564592 2009
9CDKL5, ISSX
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.
Neurogenetics 10(3):241-50. Epub 2009 Feb 25.PMID: 19241098 2009
10CDKL5, ISSX
CDKL5 disruption by t(X;18) in a girl with West syndrome.
Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuchi Y, Matsumoto N.
Clin Genet 74(3):288-90. Epub 2008 Jun 28. No abstract available. 2008
11ARX, ISSX, MRX54, PRTS
Identification of Arx transcriptional targets in the developing basal forebrain.
Fulp CT, Cho G, Marsh ED, Nasrallah IM, Labosky PA, Golden JA.
Hum Mol Genet 17(23):3740-60. Epub 2008 Sep 16. 2008
12CDKL5, EIEE2, ISSX
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.
Neurology 71(13):997-9. 2008
13CDKL5, EIEE2, ISSX
Key clinical features to identify girls with CDKL5 mutations.
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.
Brain 131(Pt 10):2647-61. Epub 2008 Sep 12. 2008
14ARX, ISSX
A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome).
Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.
Am J Hum Genet 81(2):361-6. Epub 2007 Jun 11. 2007
15ARX,IPO13,ISSX,MRX54,PRTS
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gecz J.
Genomics 90(1):59-71. Epub 2007 May 9. 2007
16CDKL5, EIEE2, ISSX
Myoclonic encephalopathy in the CDKL5 gene mutation.
Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J.
Clin Neurophysiol 117(1):223-7. Epub 2005 Dec 2. 2006
17CDKL5, EIEE2, ISSX
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
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.
J Med Genet 43(9):729-34. Epub 2006 Apr 12. 2006
18CDKL5, ISSX,RTTA
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T.
Clin Genet 70(1):29-33. 2006
19CDKL5, EIEE2, ISSX
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, Badaracco G, Landsberger N, Kilstrup-Nielsen C.
J Biol Chem 281(42):32048-56. Epub 2006 Aug 24. 2006
20CDKL5, EIEE2, ISSX, RTT
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
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.
Hum Mol Genet 14(14):1935-46. Epub 2005 May 25. 2005
21CDKL5, EIEE2, ISSX
Early onset seizures and Rett-like features associated with mutations in CDKL5.
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.
Eur J Hum Genet 13(10):1113-20. 2005
22CDKL5, EIEE2, ISSX, MECP2, RTT
CDKL5 and MeCP2: partners in Rett pathogenesis.
Warby S.
Clin Genet 68(6):497-500. No abstract available. 2005
23CDKL5, EIEE2, ISSX
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
Lin C, Franco B, Rosner MR.
Hum Mol Genet 14(24):3775-86. Epub 2005 Dec 5. 2005
24CDKL5, EIEE2, ISSX
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
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.
Am J Hum Genet 75(6):1149-54. 2004
25CDKL5, EIEE2, ISSX, MECP2, RTT
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
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.
Am J Hum Genet 75(6):1079-93. Epub 2004 Oct 18. 2004
26CDKL1, CDKL2, CDKL5, EIEE2, ISSX
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
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.
Am J Hum Genet 72(6):1401-11. Epub 2003 May 07. 2003
27ISSX, ARX
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC.
Neurology 59(3):348-56. 2002
28ARX, ISSX
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J.
Brain Dev 24(5):266-8. 2002
29ISSX
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.
Bruyere H, et al.
Clin Genet 55(3):173-81. 1999
30ISSX
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
Claes S, Devriendt K, Lagae L, Ceulemans B, Dom L, Casaer P, Raeymaekers P, Cassiman JJ, Fryns JP.
Ann Neurol 42(3):360-4. 1997