Genetic epileptic encephalopathies: Is all written into the DNA?

Epilepsia

Volumn 54, Issue SUPPL.8, 2013, Pages 22-26

  Striano, Pasquale ^a   De Jonghe, Peter ^b   Zara, Federico ^c  

^a UNIVERSITY OF GENOA   (Italy)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Cognition; Dravet syndrome; Encephalopathy; Genetics; SCN1A

Indexed keywords

COGNITION; DRAVET SYNDROME; ENCEPHALOPATHY; GENETICS; SCN1A;

BRAIN DISEASES; COGNITION DISORDERS; EPILEPSIES, MYOCLONIC; EPILEPSY; HUMANS;

EID: 84893857215     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12419     Document Type: Article

References (33)

1. Bender AC, Morse RP, Scott RC, Holmes GL, Lenck-Santini PP. (2012) SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. Epilepsy Behav 23:177-186.
2. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, Van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE. (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51:676-685.
3. Ceulemans BP, Claes LR, Lagae LG (2004) Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 30:236-243.
4. Chieffo D, Battaglia D, Lettori D, Del Re M, Brogna C, Dravet C, Mercuri E, Guzzetta F. (2011) Neuropsychological development in children with Dravet syndrome. Epilepsy Res 95:86-93.
5. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327-1332.
6. Cross JH, Guerrini R. (2013) The epileptic encephalopathies. Handb Clin Neurol 111:619-626.
7. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. (2005) Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 95:71-102.
8. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y. (2003) Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126:531-546.
9. Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. (2006) Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun 341:489-493.
10. Guerrini R, Falchi M. (2011) Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. Dev Med Child Neurol 53(Suppl. 2):11-15.
11. Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O. (1998) Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 39:508-512.
12. Guerrini R, Striano P, Catarino C, Sisodiya SM. (2011) Neuroimaging and neuropathology of Dravet syndrome. Epilepsia 52(Suppl. 2):30-34.
13. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A, Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. (2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130:843-852.
14. Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S. (2004) Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology 63:329-334.
15. Khan S, Al Baradie R. (2012) Epileptic encephalopathies: an overview. Epilepsy Res Treat 2012:403592.
16. Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio MR, Gaggero R, Pierluigi M, Minetti C, Zara F. (2006) Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology 67:1230-1235.
17. Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. (2006) Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. Epilepsia 47:1629-1635.
18. Erratum in: Epilepsia 2007;48:409.
19. Marini C, Scheffer IE, Nabbout R, et al. (2009) SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 50:1670-1680.
20. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. (2005) SCN1A mutations and epilepsy. Hum Mutat 25:535-542.
21. Nicita F, De Liso P, Danti FR, Papetti L, Ursitti F, Castronovo A, Allemand F, Gennaro E, Zara F, Striano P, Spalice A. (2012) The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. Seizure 21:3-11.
22. Ragona F, Brazzo D, De Giorgi I, Morbi M, Freri E, Teutonico F, Gennaro E, Zara F, Binelli S, Veggiotti P, Granata T. (2010) Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Braín Dev 32:71-77.
23. Ragona F, Granata T, Dalla Bernardina B, Offredi F, Darra F, Battaglia D, Morbi M, Brazzo D, Cappelletti S, Chieffo D, De Giorgi I, Fontana E, Freri E, Marini C, Toraldo A, Specchio N, Veggiotti P, Vigevano F, Guerrini R, Guzzetta F, Dravet C. (2011) Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. Epilepsia 52:386-392.
24. Riva D, Vago C, Pantaleoni C, Bulgheroni S, Mantegazza M, Franceschetti S. (2009) Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. Am J Med Genet A 149 A: 2339-2345.
25. Specchio N, Balestri M, Trivisano M, Japaridze N, Striano P, Carotenuto A, Cappelletti S, Specchio LM, Fusco L, Vigevano F. (2012) Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients. J Child Neurol 27:439-444.
26. Striano P, Zara F. (2011) Genetic epilepsies. Eur J Paediatr Neurol 15:88-89.
27. Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. (2007a) Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia 48:1092-1096.
28. Striano P, Coppola A, Pezzella M, Ciampa C, Specchio N, Ragona F, Mancardi MM, Gennaro E, Beccaria F, Capovilla G, Rasmini P, Besana D, Coppola GG, Elia M, Granata T, Vecchi M, Vigevano F, Viri M, Gaggero R, Striano S, Zara F. (2007b) An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. Neurology 69:250-254.
29. Striano P, Striano S, Minetti C, Zara F. (2008) Refractory, lifethreatening status epilepticus in a 3-year-old girl. Lancet Neurol 7:278-284.
30. Tuchman R, Moshé SL, Rapin I. (2009) Convulsing toward the pathophysiology of autism. Brain Dev 31:95-103.
31. Westerlain CG, Fujikawa DG, Penix L, Sankar R. (1993) Pathophysiological mechanisms of brain damage from status epilepticus. Epilepsia 34(Suppl. 1):37-53.
32. Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9:1142-1149.
33. Erratum in: Nat Neurosci 10(1):134.