Benign Familial Neonatal-Infantile Seizures: Characterization of a New Sodium Channelopathy

Annals of Neurology

Volumn 55, Issue 4, 2004, Pages 550-557

  Berkovic, Samuel F ^a,i   Heron, Sarah E ^b   Giordano, Lucio ^c   Marini, Carla ^a,d   Guerrini, Renzo ^d   Kaplan, Robert E ^e   Gambardella, Antonio ^f   Steinlein, Ortrud K ^g   Grinton, Bronwyn E ^a   Dean, Joanne T ^a   Bordo, Laura ^h   Hodgson, Bree L ^b   Yamamoto, Toshiyuki ^b   Mulley, John C ^b   Zara, Federico ^h   Scheffer, Ingrid E ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c Division of Child Neuropsychiatry   (Italy)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^e UNIVERSITY AT BUFFALO   (United States)

^f UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^g UNIVERSITY HOSPITAL BONN   (Germany)

^h G GASLINI INSTITUTE   (Italy)

ⁱ Epilepsy Research Centre   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BENIGN CHILDHOOD EPILEPSY; CORRELATION ANALYSIS; ELECTROENCEPHALOGRAM; FAMILY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE; GENE MUTATION; GRAND MAL SEIZURE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; MOLECULAR GENETICS; NEUROPATHOLOGY; NEWBORN; NEWBORN PERIOD; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; PROGNOSIS; RECORDING; SCN2A GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY, BENIGN NEONATAL; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; SODIUM CHANNELS;

EID: 12144285702     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20029     Document Type: Article

References (29)

1. Chevrie JJ, Aicardi J. Convulsive disorders in the first year of life: neurological and mental outcome and mortality. Epilepsia 1978;19:67-74.
2. Matsumoto A, Watanabe K, Suguira M, et al. Long-term prognosis of convulsive disorders in the first year of life: mental and physical development and seizure persistence. Epilepsia 1983; 24:321-329.
3. Plouin P, Anderson VE. Benign familial and non-familial neonatal seizures. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London: John Libbey, 2002:3-13.
4. 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.
5. Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279: 403-406.
6. Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-55.
7. Vigevano F, Fusco L, Di Capua M, et al. Benign infantile familial convulsions. Eur J Pediatr 1992;151:608-612.
8. Fukuyama Y. Borderland of epilepsy, with special references to febrile convulsions and so-called infantile convulsions. Seishin Igaku (Tokyo) 1963;5:211-223.
9. Watanabe K, Yamamoto N, Negoro T, et al. Benign complex partial epilepsies in infancy. Pediatr Neurol 1987;3:208-211.
10. Watanabe K, Negoro T, Aso K. Benign partial epilepsy with secondarily generalized seizures in infancy. Epilepsia 1993;34: 635-638.
11. Szepetowski P, Rochette J, Berquin P, et al. 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.
12. Guipponi M, Rivier F, Vigevano F, et al. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997;6:473-477.
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. Kaplan RE, Lacey DJ. Benign familial neonatal-infantile seizures. Am J Med Genet 1983;16:595-599.
15. Heron SE, Crossland KM, Andermann E, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-2. Erratum: Lancet 2002;360:1520.
16. Heron SE, Crossland KM, Andermann E, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-2. Erratum: Lancet 2002;360:1520.
17. Sugawara T, Tsurubuchi Y, Agarwala KL, et al. A missense 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.
18. Giordano L, Accorsi P, Valseriati D, et al. Benign familial infantile convulsions: natural history of a case and clinical characteristics of a large Italian family. Neuropediatrics 1999;30: 99-101.
19. Malacarne M, Gennaro E, Madia F, et al. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Am J Hum Genet 2001;68:1521-1526.
20. Commission on Classification and Terminology of the International League against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30: 389-399.
21. Dedek K, Kunath B, Kananura C, et al. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci USA 2001;98: 12272-12277.
22. Vigevano F, Bureau M. Idiopathic and/or benign localization-related epilepsies in infants and young children. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London: John Libbey, 2002:153-160.
23. Caraballo RH, Cersosimo RO, Espeche A, Fejerman N. Benign familial and non-familial infantile seizures: a study of 64 patients. Epileptic Dis 2003;5:45-49.
24. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490.
25. Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalised epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999;45:75-81.
26. Yu FH, Catterall WA. Overview of the voltage-gated sodium channel family. Genome Biol 2003;4:207.
27. 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.
28. Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium channel α1 subunit (SCN1A) mutations in generalised epilepsy with febrile seizures plus. Am J Hum Genet 2001;68: 859-865.
29. Abou-Khalil B, Ge Q, Desai R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001;57:2265-2272.