SCN1A testing for epilepsy: Application in clinical practice

Epilepsia

Volumn 54, Issue 5, 2013, Pages 946-952

  Hirose, Shinichi ^a   Scheffer, Ingrid E ^b   Marini, Carla ^c   De Jonghe, Peter ^d,e   Andermann, Eva ^f   Goldman, Alica M ^g   Kauffman, Marcelo ^h   Tan, Nigel C K ⁱ   Lowenstein, Daniel H ^j   Sisodiya, Sanjay M ^k,l   Ottman, Ruth ^m   Berkovic, Samuel F ^b  

^a FUKUOKA UNIVERSITY   (Japan)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f MCGILL UNIVERSITY   (Canada)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h UNIVERSIDAD DE BUENOS AIRES   (Argentina)

ⁱ NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l EPILEPSY SOCIETY   (United Kingdom)

^m Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

more..

Author keywords

Diagnosis; Dravet syndrome; Epileptic encephalopathy; Guideline; Seizures; severe myoclonic epilepsy in infancy (SMEI); Sodium channel

Indexed keywords

SODIUM CHANNEL NAV1.1;

ARTICLE; BRAIN DISEASE; CHROMOSOME 2Q; CHROMOSOME REARRANGEMENT; CLINICAL PRACTICE; DNA SEQUENCE; EPILEPTIC STATE; FEBRILE CONVULSION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; INFANTILE SPASM; INTRON; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SEVERE MYOCLONIC EPILEPSY IN INFANCY;

EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL;

EID: 84876915067     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12168     Document Type: Article

References (49)

1. Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R,. (2012) De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 44: 1255-1259.
2. Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE,. (2006) De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 5: 488-492.
3. Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stodberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE,. (2011) De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 77: 380-383.
4. Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM,. (2011) Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 134: 2982-3010.
5. Chiron C, Dulac O,. (2011) The pharmacologic treatment of Dravet syndrome. Epilepsia 52 (Suppl. 2): 72-75.
6. Chiron C, Marchand MC, Tran A, Rey E, d'Athis P, Vincent J, Dulac O, Pons G,. (2000) Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet 356: 1638-1642.
7. Coppola G, Plouin P, Chiron C, Robain O, Dulac O,. (1995) Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia 36: 1017-1024.
8. Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E,. (2006) Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 27: 389.
9. Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E,. (2009) Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 46: 183-191.
10. Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Heron D, Nabbout R, Leguern E,. (2010) Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet 47: 404-410.
11. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gecz J,. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40: 776-781.
12. Dravet C,. (1978) Les epilepsies garaves de l'enfant. Vie Med 8: 543-548.
13. Dravet C, Roger J, Bureau M, Dalla Bernardina B,. (1982) Myoclonic epilepsies in childhood. In, Akimoto H, Kazamatsuri H, Seino M, Ward A Jr, (Eds) Advances in epileptology, the XIII Epilepsy International Symposium. Raven Press, New York, NY, pp. 135-140.
14. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O,. (2002) Severe myoclonioc epilepsy in infancy (Dravet syndrome). In, Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, (Eds) Epileptic syndromes in infancy, childhood and adlescence. John Libbey Co Ltd., Eastleigh, UK, pp. 81-103.
15. Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE,. (2011) When should clinicians order genetic testing for dravet syndrome? Pediatr Neurol 45: 319-323.
16. Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL,. (2011) Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol 68: 665-671.
17. 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 α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126: 531-546.
18. 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.
19. 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.
20. A-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70: 530-536.
21. 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, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE,. (2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130: 843-852.
22. Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I,. (2008) A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia 49: 626-633.
23. Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC,. (2010) Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3. Epilepsia 51: 1865-1869.
24. Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S,. (2012) PCDH19 mutation in Japanese females with epilepsy. Epilepsy Res 99: 28-37.
25. Lossin C,. (2009) A catalog of SCN1A variants. Brain Dev 31: 114-130.
26. Marini C, Mei D, Helen Cross J, Guerrini R,. (2006) Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 47: 1737-1740.
27. Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC,. (2009) SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 50: 1670-1678.
28. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R,. (2010) Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 75: 646-653.
29. McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF,. (2010) Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 9: 592-598.
30. Millichap JJ, Koh S, Laux LC, Nordli DR Jr,. (2009) Child Neurology: Dravet syndrome: when to suspect the diagnosis. Neurology 73: e59-e62.
31. Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE,. (2006) A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 67: 1094-1095.
32. Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K,. (2010) Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome. Hum Mutat 31: 820-829.
33. Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K,. (2012) A homozygous mutation of voltage-gated sodium channel β1 gene SCN1B in a patient with Dravet syndrome. Epilepsia 53: e200-e203.
34. Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M,. (2001) Severe myoclonic epilepsy in infants-a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev 23: 736-748.
35. Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE,. (2010) Genetic testing in the epilepsies-report of the ILAE Genetics Commission. Epilepsia 51: 655-670.
36. Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL,. (2009) A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 29: 10764-10778.
37. Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T,. (2011) An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy. Am J Med Genet A 155: 920-923.
38. Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S,. (2009) Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy. Epilepsia 50: 2158-2162.
39. Scheffer IE, Berkovic SF,. (1997) Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120: 479-490.
40. Scheffer IE, Berkovic SF,. (2000) Genetics of the epilepsies. Curr Opin Pediatr 12: 536-542.
41. Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF,. (2008) Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 131: 918-927.
42. Scheffer IE, Zhang YH, Jansen FE, Dibbens L,. (2009) Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 31: 394-400.
43. Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S,. (2009) Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev 31: 758-762.
44. Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR,. (2006) Microdeletions involving the SCN1A gene may be common in SCN1A-mutation- negative SMEI patients. Hum Mutat 27: 914-920.
45. +-channel β1 subunit gene SCN1B. Nat Genet 19: 366-370.
46. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF,. (2001) Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 68: 859-865.
47. Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE,. (2003) Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 61: 765-769.
48. Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S,. (2008) Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia 49: 1528-1534.
49. Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH,. (2011) Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 76: 594-600.