Seizure: European Journal of Epilepsy
Volume 21, Issue 1 , Pages 3-11 , January 2012

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

  • Francesco Nicita

      Affiliations

    • Department of Pediatrics, Child Neurology Division, “Sapienza” University of Rome, Italy
    • ,
  • Paola De Liso

      Affiliations

    • Department of Child Neuropsychiatry, “Sapienza” University of Rome, Italy
    • ,
  • Federica Rachele Danti

      Affiliations

    • Department of Child Neuropsychiatry, “Sapienza” University of Rome, Italy
    • ,
  • Laura Papetti

      Affiliations

    • Department of Pediatrics, Child Neurology Division, “Sapienza” University of Rome, Italy
    • ,
  • Fabiana Ursitti

      Affiliations

    • Department of Pediatrics, Child Neurology Division, “Sapienza” University of Rome, Italy
    • ,
  • Antonella Castronovo

      Affiliations

    • Department of Pediatrics, Child Neurology Division, “Sapienza” University of Rome, Italy
    • ,
  • Federico Allemand

      Affiliations

    • Department of Child Neuropsychiatry, “Sapienza” University of Rome, Italy
    • ,
  • Elena Gennaro

      Affiliations

    • Laboratory of Genetics, E.O. Ospedali Galliera, Genova, Italy
    • ,
  • Federico Zara

      Affiliations

    • Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, Genova, Italy
    • ,
  • Pasquale Striano

      Affiliations

    • Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, Genova, Italy
    • ,
  • Alberto Spalice

      Affiliations

    • Department of Pediatrics, Child Neurology Division, “Sapienza” University of Rome, Italy
    • Corresponding Author InformationCorresponding author at: Department of Pediatrics, Child Neurology Division “Sapienza” Roma, Viale Regina Elena 324 00161 Roma, Italy. Tel.: +39 06 49979311; fax: +39 06 49979312.

Received 13 January 2011 ,Revised 6 August 2011 ,Accepted 9 August 2011.

References 

  1. Weber YG, Lerche H. Genetic mechanisms in idiopathic epilepsies. Developmental Medicine and Child Neurology. 2008;50:648–654
  2. Stafstrom CE. Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. Journal of Child Neurology. 2009;24(Suppl.):15S–23S
  3. Ohtahara S, Ishida T, Oka E, Yamatogi Y, Inoue H, Kanda S. On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-bursts. No To Hattatsu. 1972;8:270–280
  4. Ohtahara S, Yamatogi Y. Epileptic encephalopathy in early infancy with suppression bursts. Journal of Clinical Neurophysiology. 2003;20(6):398–407
  5. Parisi P, Spalice A, Nicita F, Papetti L, Ursitti F, Verrotti A, et al Epileptic encephalopathy of infancy and childhood: electro-clinica pictures and recent understandings. Current Neuropharmacology. 2010;8(4):409–421
  6. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, et al Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nature Genetic. 2002;32:359–369
  7. Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, et al X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology. 2002;59(3):348–356
  8. Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, Dicaire MJ, et al Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Human Molecular Genetic. 2003;12:2967–2979
  9. Marcorelles P, Laquerrière A, Adde-Michel C, Marret S, Saugier-Veber P, Beldjord C, et al. Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1 DCX and ARX genes. Acta Neuropathologica. 2010;120(4):503–515
  10. Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, et al Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. Brain and Development. 2009;31:469–472
  11. McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, et al Aristaless related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience. 2007;146:236–247
  12. Kato M. Topics of brain malformation and epilepsy: age dependent epileptic encephalopathies and interneuronopathies. No To Hattatsu. 2010;42(5):333–338
  13. Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, et al Neuroanatomical distribution of ARX in brain and its localization in GABAergic neurons. Brain Research: Molecular Brain Research. 2004;122:35–46
  14. Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, et al A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). American Journal of Human Genetics. 2007;81:361–366
  15. Bonneau D, Toutain A, Laquerriere A, Marret S, Saugier-Veber P, Barthez MA, et al X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Annals of Neurology. 2002;51:340–349
  16. Bhaskar K, Shareef MM, Sharm VM, Shetty AP, Ramamohan Y, Pant HC, et al Co-purification and localization of Munc 18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins. Neurochemistry International. 2004;44:35–44
  17. Weimer RM, Richmond JE, Davis WS, Hadwiger G, Nonet ML, Jorgensen EM. Defects in synaptic vescicle docking in munc-18 mutants. Nature Neuroscience. 2003;6:1023–1030
  18. Saitsu H, Kato M, Mitsuguchi T, Hamada K, Osaka H, Tohyama J, et al De novo mutations in the gene encoding STXBP1 (Munc 18-1) cause early infantile epileptic encephalopathy. Nature Genetics. 2008;40:782–788
  19. Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, et al STXBP1 mutations in early infantile encephalopathy with suppression-burst pattern. Epilepsia. 2010;51(12):2397–2405
  20. Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, et al Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology. 2010;75:1159–1165
  21. Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, et al De novo STXBP1 mutations in mental retardation and non syndromic epilepsy. Annals of Neurology. 2002;65:748–753
  22. Commission on classification and terminology of International League Against Epilepsy: proposal for revised Classification of Epilepsies and Epileptic syndromes. Epilepsia. 1989;30:389–399
  23. Aicardi J, Goutieres F. Encéphalopathie myoclonique néonatal. Revue d’electroencephalographie et de neurophysiologie clinique. 1978;8:99–101
  24. Dalla Bernardina B, Dulac O, Fejerman N, Dravet C, Capovilla G, Bondavalli S, et al Early myoclonic epileptic encephalopathy (EMEE). European Journal of Pediatrics. 1983;140:248–252
  25. Murakami N, Ohtsuka Y, Ohtahara S. Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs Ohtahara syndrome. The Japanese Journal of Psychiatry and Neurology. 1993;47:197–200
  26. Aicardi J. Early myoclonic encephalopathy (neonatal myoclonic encephalopathy). In:  Roger J,  Bureau M,  Dravet C,  Dreifuss FE,  Wolf P editor. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed.. London: John Libbey; 1992;p. 13–23
  27. Lombroso CT. Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies. Journal of Clinical Neurophysiology. 1990;7:380–408
  28. Wang PJ, Lee WT, Hwu WL, Young C, Yau KI, Shen YZ. The controversy regarding diagnostic criteria for early myoclonic encephalopathy. Brain and Development. 1998;20:530–535
  29. Chen PT, Young C, Lee WT, Wang PJ, Peng SS, Shen YZ, et al. Early encephalopathy with suppression burst electroencephalographic pattern—an anlysis of eight Taiwanase patients. Brain and Development. 2001;23:715–720
  30. Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, et al Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. American Journal of Human Genetic. 2005;76:334–339
  31. Fiermonte G, Calmieri L, Todisco S, Agrimi G, Calmieri F, Walzer JE. Identification of the mitochondrial glutammate transporter: bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. The Journal of Biological Chemistry. 2002;277:19289–19294
  32. Depaulis A, Vergnes M, Marescaux C. Endogenous control of epilepsy: the nigral inhibitory system. Progress in Neurobiology. 1994;43:33–52
  33. Deransart C, Le-Pham BT, Hirsch E, Marescaux C, Depaulis A. Inhibition of the substantia nigra suppresses absences and clonic seizures in audiogenic rats, but not tonic seizures: evidence for seizure specificity of the nigral control. Neuroscience. 2001;105:203–211
  34. Harding BN, Boyd SG. Intractable seizures from infancy can be associated with dentato-olivary dysplasia. Journal of the Neurological Sciences. 1991;104:157–165
  35. Robain O, Dulac O. Early epileptic encephalopathy with suppression bursts and olivary-dentate dysplasia. Neuropediatrics. 1992;23:162–164
  36. Berkich DA, Ola MS, Cole J, Sweatt AJ, Hutson SM, LaNoue KF. Mitochondrial transport proteins of the brain. Journal of Neuroscience Reserch. 2007;85:3367–3377
  37. Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, et al Mutations in the mitochondrial glutamate carrier SLC24A22 in neonatal epileptic encephalopathy with suppression bursts. Clinical Genetics. 2009;76:188–194
  38. Bellini G, Miceli F, Soldovieri MV, Miraglia del Giudice E, Pascotto A, Taglialatela M. Benign familial neonatal seizures. In:  Pagon RA,  Bird TC,  Dolan CR,  Stephens K editor. GeneReviews. Seattle, WA: University of Washington; 1993–2010;
  39. Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology. Epilepsia. 2001;42:796–803
  40. Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology. 1993;43:1355–1360
  41. Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri MV, et al A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. Neurology. 2003;61:131–134
  42. Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proceeding of the National Academy of Science of the USA. 2001;98:12272–12277
  43. Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, et al A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology. 2004;63:57–65
  44. Schmitt B, Wohlrab G, Sander T, Steinlein OK, Hajnal BL. Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Research. 2005;65:161–168
  45. Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, et al. A potassium channel mutation in neonatal human epilepsy. Science. 1998;279:403–406
  46. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genetic. 1998;18:53–55
  47. Castaldo P, Miraglia del Giudice E, Coppola G, Pascotto A, Annunziato L, Taglialatela M. Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. The Journal of Neuroscience. 2002;22:RC199
  48. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, et al A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genetics. 1998;18:25–29
  49. Jentsch TJ. Neuronal KCNQ potassium channels: physiology and role in disease. Nature Reviews: Neuroscience. 2000;1:21–30
  50. Kanaumi T, Takashima S, Iwasaki H. Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain and Development. 2008;30:362–369
  51. Steinlein OK, Conrad C, Weidner B. Benign familial neonatal convulsions: always benign?. Epilepsy Research. 2007;73:245–249
  52. Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, et al KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain. 2003;126:2726–2737
  53. Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, et al De novo KCNQ2 mutations in patients with benign neonatal seizures. Neurology. 2004;63:2155–2158
  54. Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, et al. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. Journal of Medical Genetic. 2007;44:791–796
  55. Lee IC, Chen JY, Chen YJ, Yu JS, Su PH. Benign familial neonatal convulsions: novel mutation in a newborn. Pediatric Neurology. 2009;40:387–391
  56. Volkersa L, Rookb MB, Dasb JHG. Functional analysis of novel KCNQ2 mutations found in patients with benign familial neonatal convulsions. Neuroscience Letters. 2009;462:24–29
  57. Soldovieri MV, Miceli F, Bellini G, Coppola G, Pascotto A, Taglialatela M. Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations. Channels. 2007;1(4):228–233
  58. Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, et al Benign familial neonatal infantile seizures: characterization of a new sodium channelopathy. Annals of Neurology. 2004;55:550–557
  59. Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, et al. A novel SCN2A mutation in family with benign familial infantile seizures. Epilepsia. 2006;47:218–220
  60. Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 2002;360(9336):851–852
  61. Scalmani P, Rusconi R, Armatura E, Zara F, Avanzini G, Franceschetti S, et al. Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. The Journal of Neuroscience. 2006;26:10100–10109
  62. Rochette J, Roll P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. Journal of Medical Genetics. 2008;45(12):773–779
  63. Dravet C. Les épilepsies graves de l’enfant. Vie Medicale. 1998;8:543–548
  64. Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia. 2005;46(Suppl 10):41–47
  65. Wolff M, Casse‘-Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia. 2006;47(Suppl. 2):45–48
  66. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, et al Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic–clonic seizures. Brain. 2003;126(pt 3):531–546
  67. Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, et al Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia. 2004;45:140–148
  68. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, et al The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. 2007;130(pt 3):843–852
  69. Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, et al The SCN1A variant database: a novel research and diagnostic tool. Human Mutation. 2009;30:E904–E920
  70. Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, et al Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome. Human Mutation. 2010;31(7):820–829
  71. Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Genotype–phenotype associations in SCN1A-related epilepsies. Neurology. 2011;76(7):594–600
  72. Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, et al Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity. Journal of Medical Genetics. 2009;46:671–679
  73. Yu MJ, Shi YW, Gao MM, Deng WY, Liu XR, Chen L, et al. Milder phenotype with SCN1A truncation mutation other than SMEI. Seizure. 2010;19(7):443–445
  74. Gambardella A, Marini . C. Clinical spectrum of SCN1A mutations. Epilepsia. 2009;50(Suppl. 5):20–23
  75. Miyama S, Goto T, Inoue Y, Yamawaka K. Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. Pediatric Neurology. 2008;39:120–122
  76. Nicita F, Spalice A, Papetti L, Ursitti F, Parisi P, Gennaro E, et al Genotype–phenotype correlations in a group of 15 SCN1A-mutated italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy). Journal of Child Neurology. 2010;25(11):1369–1376
  77. McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurology. 2010;9(6):592–598
  78. Hawkins NA, Martin MS, Frankel WN, Kearney JA, Escayg A. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiology of Disorders. 2011;41(3):655–660
  79. Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, et al Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. Journal of Medical Genetics. 2010;47(6):404–410
  80. Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, et al Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Human Mutation. 2006;27:389
  81. Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, et al Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochemical and Biophysical Research Communications. 2006;341:489–493
  82. Marini C, Mei D, Cross HJ, Guerrini R. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia. 2006;47:1737–1740
  83. Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, et al SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia. 2006;47:1732–1736
  84. Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, et al Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. Epileptic Disorders. 2010;12(2):117–124
  85. Vadlamudi L, Dibbens LM, Lawrence KM, Iona X, McMahon JM, Murrell W, et al. Timing of de novo mutagenesis—a twin study of sodium-channel mutations. The New England Journal of Medicine. 2010;363(14):1335–1340
  86. Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, et al De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology. 2009;73(13):1046–1053
  87. Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain and Development. 2009;31(10):758–762
  88. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud’homme JF, et al First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nature Genetics. 2001;28:46–48
  89. Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR, et al Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology. 2002;58:1426–1429
  90. Juberg RC, Hellman CD. A new familial form of convulsive disorder and mental retardation limited to females. Journal of Pediatrics. 1971;79:726–732
  91. Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nature Genetics. 1997;17:92–95
  92. Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, et al Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain. 2008;131:918–927
  93. Dibbens LM, Tarpey PS, Hynes K, Baylym MA, Scheffer IE, Smith R, et al X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics. 2008;40:776–781
  94. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, et al Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genetics. 2009;5:e1000381
  95. Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM. Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. American Journal of Medical Genetics A. 2010;152A(10):2475–2481
  96. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, et al Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. 2010;75:646–653
  97. Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, et al Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human Mutation. 2011;32(1):E1959–E1975
  98. Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, et al Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy and Behaviour. 2010;19(3):296–300
  99. Matijevic T, Knezevic J, Slavica M, Pavelic J. Rett syndrome: from the gene to the disease. European Neurology. 2009;61:3–10
  100. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, et al Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics. 2004;75(6):1079–1093
  101. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, et al CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. Journal of Medical Genetics. 2005;42:103–107
  102. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O’Callaghan F, et al CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Journal of Medical Genetics. 2006;43:729–734
  103. Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, et al Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics. 2009;76(4):357–371
  104. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Human Molecular Genetics. 2004;14(14):1935–1946
  105. Guerrini R, Sanchez-Carpintero R, Donna T, Cantucci M, Bhatia KP, Moreno T, et al Early onset absence epilepsy and paroxysmal dyskinesia. Epilepsia. 2002;43:1224–1229
  106. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, et al Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nature Genetics. 2001;28(1):49–52
  107. Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain. 2003;126:230–240
  108. Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology. 2003;61(6):854–856
  109. Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, et al Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT. Annals of Neurology. 2009;66(3):415–419
  110. Seidner G, Alvarez MG, Yeh JI, O’Driscoll KR, Klepper J, Stump TS, et al GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood–brain barrier hexose carrier. Nature Genetics. 1998;18(2):188–191
  111. Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, et al Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008;131:1831–1844
  112. Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology. 2010;75(5):432–440
  113. Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, et al Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nature Genetics. 2004;36(8):842–849
  114. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nature Genetics. 2002;31(2):184–189
  115. D’Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, et al Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology. 2004;63(8):1500–1502
  116. Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, et al Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nature Genetics. 2003;33(4):527–532
  117. Rozycka A, Steinborn B, Trzeciak WH. The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. Seizure. 2009;18(8):601–603
  118. Cosette P. Channelopathies and juvenile myoclonic epilepsy. Epilepsia. 2010;51(Suppl. 1):30–32
  119. Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalprà L, et al Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain. 1998;121(Pt 2):205–223
  120. Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, et al Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain. 2000;123(Pt 6):1247–1262
  121. Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology. 1997;49:969–975
  122. Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE, Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia. 2000;41:529–535
  123. Tenchini ML, Duga S, Bonati MT, Asselta R, Oldani A, Zucconi M, et al SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. Sleep. 1999;22:637–639
  124. Steinlein OK, Weiland S, Stoodt J, Propping P. Exon–intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). Genomics. 1996;32(2):289–294
  125. Steinlein OK. Genetic mechanisms that underlie epilepsy. Nature Reviews: Neuroscience. 2004;5:443–448
  126. Lerche H, Weber YG, Jurkat-Rott K, Lehman-Horn F. Ion channel defects in idiopathic epilepsies. Current Pharmacology. 2005;11(21):2737–2752
  127. Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, et al Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. American Journal of Human Genetics. 2006;79(2):342–350
  128. Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, et al Localization of a gene for partial epilepsy to chromosome 10q. Nature Genetics. 1995;10(1):56–60
  129. Poza JJ, Saenz A, Martinez-Gil A, Cheron N, Cobo AM, Urtasun M, et al Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Annals of Neurology. 1999;45(2):182–188
  130. Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Human Mutation. 2009;30(4):530–536
  131. Michelucci R, Mecarelli O, Bovo G, Bisulli F, Testoni S, Striano P, et al A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. Neurology. 2007;68(24):2150–2151
  132. Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, et al LGI1 mutations in temporal lobe epilepsies. Neurology. 2004;62(7):1115–1119
  133. Bisulli F, Tinuper P, Avoni P, Striano P, Striano S, d’Orsi G, et al Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain. 2004;127:1343–1352
  134. Michelucci R, Poza JJ, Sofia V, de Feo MR, Binelli S, Bisulli F, et al Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia. 2003;44(10):1289–1297
  135. Rosanoff MJ, Ottman R. Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology. 2008;71:567–571
  136. Chabrol E, Popescu C, Gourfinkel-An I, Trouillard O, Depienne C, Senechal K, et al Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Archives of Neurology. 2008;64(2):217–222
  137. Diani E, Di Bonaventura C, Mecarelli O, Gambardella A, Elia M, Bovo G, et al Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins. Epilepsy Research. 2008;80(1):1–8
  138. Tessa C, Michelacci R, Nobile C, Giannelli M, Della Nave R, Testoni S, et al Structural anomaly of left lateral temporal lobe in epilepsy due to mutated LGI1. Neurology. 2007;69(12):1298–1300

PII: S1059-1311(11)00212-3

doi: 10.1016/j.seizure.2011.08.007

Seizure: European Journal of Epilepsy
Volume 21, Issue 1 , Pages 3-11 , January 2012

Article Tools