[1]
Graves T.D., Hanna M.G.: Channeling into epilepsies. Epilepsy Currents
2008;8(2):37-38
[2]
Engel J Jr: ILAE Commission Report. 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(6):796-80
[3]
OMIM (TM Online Mendelian Inheritance in Man). McKusick-Nathans
Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD)
and National Center for Biotechnology Information, National Library of
Medicine (Bethesda, MD). www.ncbi.nlm.nih.gov/omim/ (05.2009)
[4]
Scheffer I.E., Berkovic S.F.: Generalized epilepsy with febrile seizures
plus. A genetic disorder with heterogeneous clinical phenotypes. Brain
1997;120 3:479-90.
[5]
Guidelines for epidemiologic studies on epilepsy. Commission on
Epidemiology and Prognosis. International League Against Epilepsy.
Epilepsia 1993;34:592-596
[6]
Singh R., Scheffer I.E., Crossland K. et al.: Generalized epilepsy with
febrile seizures plus: a common childhood-onset genetic epilepsy
syndrome. Ann Neurol 1999;45:75-81.
[7]
Wallace R.H., Wang D.W., 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.
[8]
Audenaert D., Claes L., Ceulemans B. et al.: A deletion in SCN1B is
associated with febrile seizures and early-onset absence epilepsy.
Neurology 2003;61:854-856.
[9]
Audenaert D., van Broeckhoven C., de Jonghe P.: Genes and loci
involved in febrile seizures and related epilepsy syndromes. Hum Mutat
2006;27(5):391-401.
[10]
Pineda-Trujillo N., Carrizosa J., Cornejo W.: A novel SCN1A mutation
associated with severe GEFS+ in a large South American pedigree.
Seizure 2005;14:123-128.
[11]
Baulac S., Gourfinkel An. I., Couarch P. et al.: A novel locus for generalized
epilepsy with febrile seizures plus in French families. Arch Neurol
2008;65:943-951.
[12]
Escaya A., MacDonald B.T., Meisler M.H. et al.: Mutations of SCN1A,
encoding a neuronal sodium channel, in two families with GEFS+2. Nat
Genet 2000;24:343-345.
[13]
Escaya A., Heils A., MacDonald B.T. et al.: A novel SCN1A mutation
associated with generalized epilepsy with febrile seizures plus-and
prevalence of variants in patients with epilepsy. Am J Hum Genet
2001;68:866-873.
[14]
Yamakawa K.: Na channel gene mutations In epilepsy-The functional
consequences. Epilepsy Research 2006;70:S 218-222.
[15]
Wallace R.H., Scheffer I.E., Barnett S. et al.: Neuronal sodium-channel
alpha1-subunit mutations in generalized epilepsy with febrile seizures
plus. Am J Hum Genet 2001;68:859-65.
[16]
Claes L., Del-Favero J., Ceulemans B. et al.: De novo mutations in the
sodium-channel gene SCN1A causa severe myoclonic epilepsy of
infancy. Am J Hum Genet 2001;68:1327-1332.
[17]
Miller I.O., de Menez M.A.S.: SCN1A-Related Seizure Disorders.
GeneReviews 2007; GeneTests www.genetest.org (GeneTests: Medical
Genetics Information Resource. Copyright, University of Washington,
Seattle. 1993-2009; 05.2009).
[18]
Mulley J.C., Scheffer I.E., Petrou S. et al.: SCN1A mutations and epilepsy.
Hum Mutat 2005;25:535-542.
[19]
Berkovic S.F., Harkin L., McMahon J.M. et al.: De-novo mutations of
the sodium channel gene SCN1A in alleged vaccine encephalopathy: a
retrospective study. Lancet Neurol 2006;5:488-492.
[20]
Colosimo E., Gambardella A., Mantegazza M. et al.: Electroclinical
Features of a family with Simple febr ile seizures and temporal lobe
epilepsy associated with SCN1A loss-of-function mutation. Epilepsia
2007;48(9):1691-1696.
[21]
Grosso S., Orrico A., Galli L. et al.: SCN1A mutation associated with
atypical Panayiotopoulos syndrome. Neurology 2007;69:609-611.
[22]
Ohmori L., Ouchida M., Kobayashi K. et al.: Rasmussen encephalitis
associated with SCN1A mutation. Epilepsia 2008;49(3):521-526.
[23]
Dichgans M., Freilinger T., Eckstein G. et al.: Mutation in the neuronal
voltage-gated sodium channel SCN1A In familial hemiplegic migraine.
Lancet 2005;366:371-377.
[24]
Weiss L.A., Escayg A., Kearney J.A. et al.: Sodium channels SCN1A,
SCN2A and SCN3A in familial autism. Mol Psychiatry 2003;8:186-194.
[25]
Dravet C., Bureau M., Oguni H. et al.: Severe myoclonic epilepsy in
infancy. [w:] Roger J., Bureau M., Dravet C. et al.:Epileptic Syndromes
in Infancy, Childhood and Adolescence, 3 ed. John Libbey, Eastligh
2002;81-103.
[26]
Nabbout R., Gennaro E., Dalla Bernardina B. et al.: Spectrum of
SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology
2003;60:1961-1967.
[27]
Hattori J., Ouchida M., Ono J., Miyake S. et al.: A screening test for the
prediction of Dravet syndrome before one year of age. Epilepsia 2008;49
(4):626-633.
[28]
Fukuma G., Oguni H., Shirasaka Y. et al.: Mutations of neuronal voltagegated
Na+ channel alpha 1 subunit gene SCN1A in core severe
myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
Epilepsia 2004;45:140-148.
[29]
Fujiwara T.: Clinical spectrum of mutations in SCN1A gene: severe
myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res
2006;1:S223-230.
[30]
Doose H., Lunau H., Castiglione et al.: Severe idiopathic generalized
epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics
1998;29:229-238.
[31]
Bonanni P., Malcarne M., Moro F. et al.: Generalized epilepsy with
febrile seizures plus (GEFS+): clinical spectrum in seven Italian families
unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia
2004;45:149-158.
[32]
Fujiwara T., Sugawara T., Mazaki-Miyazaki E. et al.: Mutations of sodium
channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies
with frequent generalized tonic-clonic seizures. Brain 2003;126:531-
546.
[33]
Ebach K., Joos H., Doose H. et al.: SCN1A mutation analysis in myoclonic
astatic epilepsy and severe idiopathic generalized epilepsy of infancy
with generalized tonic-clonic seizures. Neuropediatrics 2005;36:210-
213.
[34]
Baulac S., Gourfinkel-An I., Picard F. et al.: A second locus for familial
generalized epilepsy with febrile seizures plus maps to chromosome
2q21-q33. Am J Hum Genet 1999;65:1078-1085.
[35]
Elektroniczne bazy danych mutacji genu SCN1A: SCN1AVDB (The
Variation Database of SCN1A) www.molgen.ua.ac.be/SCN1AMutations
VIB - Department of Molecular Genetics; University of Antwerp (2008)
SCN1A infobase http://web.scn1a.info UC Davis Medical Center,
Department of Neurology; Lossin C. (2008) A catalog of SCN1A variants.
Brain and Development 31;114-130, (05.2009)
[36]
Mulley J.C., Nelson P., Guerrero S. et al.: A new molecular mechanism
for severe myoclonic epilepsy of infancy: exonicdeletions in SCN1A.
Neurology 2006;26;67(6):1094-1095.
[37]
Madia F., Striano P., Gennaro E. et al.: Cryptic chromosome deletions
involving SCN1A in severe myoclonic epilepsy of infancy. Neurology
2006;10;67(7):1230-1235.
[38]
Marini C., Mei D., Temudo T. et al.: Idiopathic epilepsies with
seizures precipitated by fever and SCN1A abnormalities. Epilepsia
2007;48(9):1678-1685.
[39]
Wang J.W., Kurahashi H., Ishii A. et al.: Microchromosomal deletions
involving SCN1A and adjacent genes in severe myoclonic epilepsy in
infancy. Epilepsia 2008;49(9):1528-1534.
[40]
Marini C., Scheffer I., Nabbout R. et al.: SCN1A duplications and deletions
detected in Dravet syndrome: Implications for molecular diagnosis.
Epilepsia 2009; Epub ahead of print.
[41]
Rhodes T.H., Vanoye C.G., Ohmori I. et al.: Sodium Channel dysfunction
in intractable childhood epilepsy with generalized tonic-clonic seizures.
J Physiol 2005;569.2:433-445.
[42]
Ragsdale D.S.: How do mutant Nav1.1 sodium channel cause epilepsy?
Brain Res Rev 2008; doi:10.1016/j.brainresrev.2008.01.003.
[43]
Gambardella A., Marini C.: Clinical spectrum of SCN1A mutations.
Epilepsia 2009;50(S.5): 20-23.
[44]
Delgado-Escueta A.V., Bourgeois B.F.D.: Debate: Does genetic information
in human help us treat patients? Progenetic information in human help
us treat patients, con-genetic information does not help at all. Epilepsia
2008;49(S9):13-24.
[45]
Morimoto M., Mazaki E., Nishimura A. et al.: SCN1A mutation mosaicism
in a family with severe myoclonic epilepsy in infancy. Epilepsia
2006;47(10):1732-1736.
[46]
Gennaro E., Santorelli F.M., Bertini E. et al.: Somatic and germline
mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys
Res Commun 2006;341(2):489-930.
[47]
Marini C., Mei D., Helen Cross J. et al.: Mosaic SCN1A mutation in familial
severe myoclonic epilepsy of infancy. Epilepsia 2006;47(10):1737-
1740.
[48]
Yu F.H., Mantegazza M., Westenbroek R.E. et al.: Reduced sodium current
in GABAergic interneurons in a Mouse model of severe myoclonic
epilepsy in infancy. Nat Neurosci 2006;9:1142-1149.
[49]
Chiron C., Marchand M.C., Tran A. et al.: Stiripentol in severe myoclonic
epilepsy in infancy: a randomised placebo-controlled syndromededicated
trial. STICLO study group. Lancet 2000;356:1638-1642.