Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

Brain

Volumn 130, Issue 1, 2007, Pages 100-109

  Scheffer, Ingrid E ^a,b,d,g   Harkin, Louise A ^e,f   Grinton, Bronwyn E ^a,b   Dibbens, Leanne M ^e,f   Turner, Samantha J ^a,b   Zielinski, Marta A ^f   Xu, Ruwei ^a   Jackson, Graeme ^c   Adams, Judith ^a,b   Connellan, Mary ^a,b   Petrou, Steven ^a   Wellard, R Mark ^c   Briellmann, Regula S ^c   Wallace, Robyn H ^f   Mulley, John C ^e,f   Berkovic, Samuel F ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^d MONASH MEDICAL CENTRE   (Australia)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^g AUSTIN HEALTH   (Australia)

Author keywords

Epilepsy; GEFS+; Genetics; Sodium channel; TLE

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEBRILE CONVULSION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HIPPOCAMPAL SCLEROSIS; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SODIUM CHANNEL BETA 1 SUBUNIT GENE; TEMPORAL LOBE EPILEPSY; TEMPORAL LOBECTOMY;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; EPILEPSY, GENERALIZED; EPILEPSY, TEMPORAL LOBE; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; SEIZURES; SODIUM CHANNELS;

EID: 33845887196     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl272     Document Type: Article

References (56)

1. Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001; 57: 2265-72.
2. Audenaert D, Claes L, Ceulemans B, Lofgren A, Van Broeckhoven C, De Jonghe P. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003; 61: 854-6.
3. Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet 1999; 65: 1078-85.
4. 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. Nat Genet 2001a; 28: 46-8.
5. Baulac S, Picard F, Herman A, Feingold J, Genin E, Hirsch E, 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 2001b; 49: 786-92.
6. 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. Ann Neurol 2004; 55: 550-7.
7. Briellmann RS, Jackson GD, Kalnins R, Berkovic SF. Hemicranial volume deficits in patients with temporal lobe epilepsy with and without hippocampal sclerosis. Epilepsia 1998; 39: 1174-81.
8. Camfield C, Camfield P, Shellhaas R. Febrile seizures. International League Against Epilepsy. http://www.ilae-epilepsy.org/Visitors/Centre/ctf/ febrile_convulsions.cfm. Accessed July 15, 2005.
9. Chen C, Westenbroek RE, Xu X, Edwards CA, Sorenson DR, Chen Y, et al. Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci 2004; 24: 4030-42.
10. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68: 1327-32.
11. Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del-Favero J, et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 2003; 21: 615-21.
12. Claes L, Audenaert D, Deprez L, Van Paesschen W, Depondt C, Goossens D, et al. Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 2004; 41: 710-4.
13. Commission of Classification and Terminology of the International League Against Epilepsy. Commission of Classification and Terminology of the International League Against Epilepsy: proposal for revised clinical and electroencephalographic classification of epileptic seizuresEpilepsia 1981; 22: 489-501.
14. Commission of Classification and Terminology of the International League Against Epilepsy. Commission on Classification and Terminology of the International League Against Epilepsy: proposal for classification of epilepsies and epileptic syndromesEpilepsia 1985; 26: 268-78.
15. Commission of Classification and Terminology of the International League Against Epilepsy. Commission on Classification and Terminology of the International League Against Epilepsy: Proposal for revised classification of epilepsies and epileptic syndromesEpilepsia 1989; 30: 389-99.
16. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000; 26: 275-6.
17. Depondt C, Van Paesschen W, Matthijs G, Legius E, Martens K, Demaerel P, et al. Familial temporal lobe epilepsy with febrile seizures. Neurology 2002; 58: 1429-33.
18. Engel J, Jr. 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.
19. Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000; 24: 343-5.
20. Falconer MA, Serafetinides EA, Corsellis JAN. Etiology and pathogenesis of temporal lobe epilepsy. Arch Neurol 1964; 10: 233-48.
21. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe K, et al. Mutations of sodium channel a subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003; 126: 531-46.
22. Hamati-Haddad A, Abou-Khalil B. Epilepsy diagnosis and localization in patients with antecedent childhood febrile convulsions. Neurology 1998; 50: 917-22.
23. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, 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: 530-6.
24. Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mutat 1993; 2: 338-46.
25. Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, et al. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Epilepsy Res 2002; 48: 15-23.
26. Jackson GD, McIntosh AM, Briellmann RS, Berkovic SF. Hippocampal sclerosis studied in identical twins. Neurology 1998; 51: 78-84.
27. Kazarinova-Noyes K, Malhotra JD, McEwen DP, Mattei LN, Berglund EO, Ranscht B, et al. Contactin associates with Na+ channels and increases their functional expression. J Neurosci 2001; 21: 7517-25.
28. Machin GA. Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet 1996; 61: 216-28.
29. Maher J, McLachlan RS. Febrile convulsions. Is seizure duration the most important predictor of temporal lobe epilepsy? Brain 1995; 118: 1521-8.
30. McEwen DP, Isom LL. Heterophilic interactions of sodium channel beta1 subunits with axonal and glial cell adhesion molecules. J Biol Chem 2004; 279: 52744-52.
31. McEwen DP, Meadows LS, Chen C, Thyagarajan V, Isom LL. Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin. J Biol Chem 2004; 279: 16044-9.
32. McIntosh AM, Wilson SJ, Berkovic SF. Seizure outcome after temporal lobectomy: current research practice and findings. Epilepsia 2001; 42: 1288-307.
33. McLellan A, Phillips H, Rittey C, Kirkpatrick M, Mulley J, Goudie D, et al. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 2003; 44: 613-7.
34. Meadows LS, Malhotra J, Loukas A, Thyagarajan V, Kazen-Gillespie KA, Koopman MC, et al. Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. J Neurosci 2002; 22: 10699-709.
35. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum Mutat 2005; 25: 535-42.
36. Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, et al. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 2003; 60: 1961-7.
37. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002; 295: 17-23.
38. Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet 1995; 10: 117-8.
39. Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001; 68: 225-31.
40. Reutens DC, Howell RA, Gebert KE, Berkovic SF. Validation of a questionnaire of clinical seizure diagnosis. Epilepsia 1992; 33: 1065-71.
41. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120: 479-90.
42. Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia 2005; 46: 41-7.
43. Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures plus: a common, childhood onset, genetic epilepsy syndrome. Ann Neurol 1999; 45: 75-81.
44. Singh R, Andermann E, Whitehouse WPA, Harvey S, Keene DL, Seni M-H, et al. Severe myoclonic epilepsy of infancy: Extended spectrum of GEFS+? Epilepsia 2001; 42: 837-44.z
45. 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: 2726-37.
46. Singh SM, Murphy B, O'Reilly R. Epigenetic contributors to the discordance of monozygotic twins. Clin Genet 2002; 62: 97-103.
47. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995; 11: 201-3.
48. Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, et al. Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2001; 57: 703-5.
49. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002; 58: 1122-4.
50. Tammaro P, Conti F, Moran O. Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. Biochem Biophys Res Commun 2002; 291: 1095-101.
51. +channel beta1 subunit gene SCN1B. Nat Genet 1998; 19: 366-70.
52. 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. Nat Genet 2001a; 28: 49-52.
53. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001b; 68: 859-65.
54. Wallace R, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland G, et al. Generalised epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002; 58: 1426-9.
55. Wallace R, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodrigues-Casero V, et al. Sodium channel alpha-1 subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003; 61: 765-9.
56. Watson C, Andermann F, Gloor P, Jones-Gotman M, Peters T, Evans A, et al. Anatomic basis of amygdaloid and hippocampal volume measurement by magnetic resonance imaging. Neurology 1992; 42: 1743-50.