Citation Relationships

Legends: Link to a Model Reference cited by multiple papers


Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, Helmers SL, Goldin AL, Escayg A (2006) An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. J Neurosci 26:2714-23 [PubMed]

   Sodium channel mutations causing generalized epilepsy with febrile seizures + (Barela et al. 2006)

References and models cited by this paper

References and models that cite this paper

Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL (2001) Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57:2265-72 [PubMed]
Alekov AK, Peter W, Mitrovic N, Lehmann-Horn F, Lerche H (2001) Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation. Neurosci Lett 306:173-6 [PubMed]
Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P (2003) A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 61:854-6 [PubMed]
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 28:46-8 [Journal] [PubMed]
Bendahhou S, Cummins TR, Hahn AF, Langlois S, Waxman SG, Ptácek LJ (2000) A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest 106:431-8 [Journal] [PubMed]
Catterall WA (2000) From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 26:13-25 [PubMed]
Cestèle S, Scheuer T, Mantegazza M, Rochat H, Catterall WA (2001) Neutralization of gating charges in domain II of the sodium channel alpha subunit enhances voltage-sensor trapping by a beta-scorpion toxin. J Gen Physiol 118:291-302 [PubMed]
Chahine M, Pilote S, Pouliot V, Takami H, Sato C (2004) Role of arginine residues on the S4 segment of the Bacillus halodurans Na+ channel in voltage-sensing. J Membr Biol 201:9-24 [PubMed]
Chanda B, Asamoah OK, Bezanilla F (2004) Coupling interactions between voltage sensors of the sodium channel as revealed by site-specific measurements. J Gen Physiol 123:217-30 [Journal] [PubMed]
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327-32 [Journal] [PubMed]
Cossette P, Loukas A, Lafrenière RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA (2003) Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Res 53:107-17 [PubMed]
Cummins TR, Sigworth FJ (1996) Impaired slow inactivation in mutant sodium channels. Biophys J 71:227-36 [Journal] [PubMed]
Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC (2004) GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13:1315-9 [Journal] [PubMed]
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH (2001) A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Am J Hum Genet 68:866-73 [Journal] [PubMed]
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24:343-5 [Journal] [PubMed]
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 alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126:531-46 [PubMed]
Goldin AL (1991) Expression of ion channels by injection of mRNA into Xenopus oocytes. Methods Cell Biol 36:487-509 [PubMed]
Hayward LJ, Brown RH, Cannon SC (1996) Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. J Gen Physiol 107:559-76 [PubMed]
Hayward LJ, Brown RH, Cannon SC (1997) Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis. Biophys J 72:1204-19 [Journal] [PubMed]
Hines ML, Carnevale NT (1997) The NEURON simulation environment. Neural Comput 9:1179-209 [PubMed]
Kontis KJ, Rounaghi A, Goldin AL (1997) Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains. J Gen Physiol 110:391-401 [PubMed]
Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S, Devinsky O, George AL (2003) Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci 23:11289-95 [PubMed]
Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL (2002) Molecular basis of an inherited epilepsy. Neuron 34:877-84 [PubMed]
Mitrovic N, George AL, Horn R (1998) Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment. J Gen Physiol 111:451-62 [PubMed]
Mitrovic N, George AL, Horn R (2000) Role of domain 4 in sodium channel slow inactivation. J Gen Physiol 115:707-18 [PubMed]
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K (2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295:17-23 [PubMed]
Patton DE, Goldin AL (1991) A voltage-dependent gating transition induces use-dependent block by tetrodotoxin of rat IIA sodium channels expressed in Xenopus oocytes. Neuron 7:637-47 [PubMed]
Richmond JE, Featherstone DE, Ruben PC (1997) Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes. J Physiol 499 ( Pt 3):589-600
Scheffer IE, Berkovic SF (1997) Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120 ( Pt 3):479-90
Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, Crossland KM, Andermann F, Berkovic SF, Scheffer IE (2001) Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 42:837-44 [PubMed]
Singh R, Scheffer IE, Crossland K, Berkovic SF (1999) Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 45:75-81 [PubMed]
Spampanato J, Aradi I, Soltesz I, Goldin AL (2004) Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. J Neurophysiol 91:2040-50 [Journal] [PubMed]
   Sodium channel mutations causing generalized epilepsy with febrile seizures + (Barela et al. 2006) [Model]
Spampanato J, Escayg A, Meisler MH, Goldin AL (2001) Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci 21:7481-90 [PubMed]
Spampanato J, Escayg A, Meisler MH, Goldin AL (2003) Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience 116:37-48 [PubMed]
Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH (2004) A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci 24:10022-34 [Journal] [PubMed]
Stühmer W, Conti F, Stocker M, Pongs O, Heinemann SH (1991) Gating currents of inactivating and non-inactivating potassium channels expressed in Xenopus oocytes. Pflugers Arch 418:423-9 [PubMed]
Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K (2001) Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 57:703-5 [PubMed]
Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K (2001) 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 U S A 98:6384-9 [Journal] [PubMed]
Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28:49-52 [Journal] [PubMed]
Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR, Berkovic SF, Mulley JC (2002) Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 58:1426-9 [PubMed]
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 19:366-70 [Journal] [PubMed]
Carnevale NT, Morse TM (1996-2009) Research reports that have used NEURON Web published citations at the NEURON website [Journal]
Kahlig KM, Misra SN, George AL (2006) Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. J Neurosci 26:10958-66 [Journal] [PubMed]
van Drongelen W, Lee HC, Stevens RL, Hereld M (2007) propagation of seizure-like activity in a model of neocortex. J Clin Neurophysiol 24:182-8 [Journal] [PubMed]
(52 refs)