Genetics of epilepsy syndromes starting in the first year of life

Neurology

Volumn 72, Issue 3, 2009, Pages 273-281

  Deprez, Liesbet ^a,b,c   Jansen, An ^d   De Jonghe, Peter ^a,b,c,e  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BENIGN CHILDHOOD EPILEPSY; CHILD; GENETIC COUNSELING; GENETIC DISORDER; GENETIC PREDISPOSITION; HUMAN; METABOLIC DISORDER; PRIORITY JOURNAL; REVIEW; EPILEPSY; GENETICS; INFANT; NEWBORN; SYNDROME;

EPILEPSY; HUMANS; INFANT; INFANT, NEWBORN; SYNDROME;

EID: 59649106592     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000339494.76377.d6     Document Type: Review

References (60)

1. Kramer U. Epilepsy in the first year of life: a review. J Child Neurol 1999;14:485-489.
2. Plouin P, Anderson VE. Benign familial and non-familial neonatal seizures. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, WolfP, eds. Epileptic Syndromes in Infancy, Childhood and Adolescence. London: John Libbey & Co; 2002:3-13.
3. Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-29.
4. Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279:403-406.
5. Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsyfamily. Nat Genet 1998;18:53-55.
6. Singh NA, Westenskow P, Charlier C, 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.
7. Claes LR, Ceulemans B, Audenaert D, et al. De novo KCNQ2 mutations in patients with benign neonatal seizures. Neurology 2004;63:2155-2158.
8. Steinlein OK, Conrad C, Weidner B. Benign familial neonatal convulsions: always benign? Epilepsy Res 2007;73: 245-249.
9. Berkovic SF, Heron SE, Giordano L, et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004;55:550-557.
10. Heron SE, Crossland KM, Andermann E, et al. Sodium- channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-852.
11. Vigevano F, Fusco L, Di Capua M, Ricci S, Sebastianelli R, Lucchini P. Benign infantile familial convulsions. Eur J Pediatr 1992;151:608-612.
12. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-898.
13. Vanmolkot KR, Kors EE, Hottenga JJ, et al. Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 2003;54:360-366.
14. Watanabe K, Okumura A. Benign partial epilepsies in infancy. Brain Dev2000;22:296-300.
15. Engel J., Report of the ILAE classification core group. Epilepsia 2006;47:1558-1568.
16. Nakayama J, Fu YH, Clark AM, et al. A nonsense mutation of the MASS1 gene in a family with febrile and afe- brile seizures. Ann Neurol 2002;52:654-657.
17. Nakayama J, Yamamoto N, Hamano K, et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology2004;63: 1803-1807.
18. Yu ZL, Jiang JM, Wu DH, et al. Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain- specific gene. J Neurosci Res 2007;85:166-172.
19. 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.
20. Ito M, Nagafuji H, Okazawa H, et al. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. EpilepsyRes 2002;48:15-23.
21. Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 1998;19:366-370.
22. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2. Nat Genet 2000;24:343-345.
23. Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001;28:46-48.
24. Scheffer IE, Harkin LA, Grinton BE, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007;130:100-109.
25. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum Mutat 2005;25:535-542.
26. Wallace RH, Marini C, Petrou S, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52.
27. Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002;70:530-536.
28. Sugawara T, Tsurubuchi Y, Agarwala KL, et al. Amissense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA 2001;98:6384-6389.
29. Dibbens LM, Feng HJ, Richards MC, et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibilitylocus for generalized epilepsies. Hum Mol Genet 2004;13:1315-1319.
30. Dravet C, Bureau M. Benign myoclonic epilepsy in infancy. AdvNeurol 2005;95:127-137.
31. Zara F, Gennaro E, Stabile M, et al. Mapping ofa locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. Am J Hum Genet 2000;66:1552-1557.
32. Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol 2003;20:398-407.
33. Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008;40: 782-788.
34. Kato M, Saitoh S, Kamei A, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007;81:361- 366.
35. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 2005;95:71-102.
36. Claes L, Del Favero J, Ceulemans B, Lagae L, Van Broeck- hoven C, De Jonghe P. De novo mutations in the sodium- channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am JHum Genet 2001;68:1327-1332.
37. Suls A, Claeys KG, Goossens D, et al. Microdeletions involving the SCN1A gene may be common in SCN1A- mutation-negative SMEI patients. Hum Mutat 2006;27: 914-920.
38. Gennaro E, Santorelli FM, Bertini E, et al. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun 2006;341:489-493.
39. Wong M, Trevathan E. Infantile spasms. Pediatr eurol 2001;24:89-98.
40. Stromme P, Mangelsdorf ME, Shaw MA, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-445.
41. Scheffer IE, Wallace RH, Phillips FL, et al. X-linked myo- clonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology 2002; 59:348-356.
42. Guerrini R, Moro F, Kato M, et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dys-tonicus. Neurology 2007;69:427-433.
43. Kalscheuer VM, Tao J, Donnelly A, et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003;72:1401-1411.
44. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain Dev 2007;29:239-242.
45. Weaving LS, Christodoulou J, Williamson SL, et al. Mutations ofCDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004;75:1079-1093.
46. Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006; 43:729-734.
47. Scheffer IE, Turner SJ, Dibbens LM, et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 2008;131:918-927.
48. Dibbens LM, Tarpey PS, Hynes K, et al. X-linked pro- tocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008;40:776-781.
49. Guipponi M, Rivier F, Vigevano F, et al. Linkage mapping ofbenign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997;6:473-477.
50. Caraballo R, Pavek S, Lemainque A, et al. Linkage of benign familial infantile convulsions to chromosome 16p12- q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet 2001;68: 788-794.
51. Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996;33: 308-312.
52. Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended familyfrom the Midwest. Hum Mol Genet 1998;7:63-67.
53. Peiffer A, Thompson J, Charlier C, et al. Alocus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neu-rol 1999;46:671-678.
54. Nakayama J, Hamano K, Iwasaki N, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000;9:87-91.
55. Nabbout R, Prud'homme JF, Herman A, et al. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain 2002;125:2668-2680.
56. Audenaert D, Claes L, Claeys KG, et al. A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus. J Med Genet 2005;42:947-952.
57. Nabbout R, Baulac S, Desguerre I, et al. New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p. Neurology 2007;68:1374-1381.
58. Hedera P, Ma S, Blair MA, et al. Identification ofa novel locus for febrile seizures and epilepsy on chromosome 21q22. Epilepsia 2006;47:1622-1628.
59. Baulac S, Picard F, Herman A, et al. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 2001;49:786-792.
60. Claes L, Audenaert D, Deprez L, et al. Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 2004;41:710-714.