-
1
-
-
84876810974
-
The epileptic encephalopathies
-
Cross JK, Guerrini R,. The epileptic encephalopathies. Handb Clin Neurol 2013; 111: 619-626.
-
(2013)
Handb Clin Neurol
, vol.111
, pp. 619-626
-
-
Cross, J.K.1
Guerrini, R.2
-
2
-
-
84919868895
-
Epileptic encephalopathies: New genes and new pathways
-
Esmaeeli Nieh S, Sherr EH,. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics 2014; 11: 796-806.
-
(2014)
Neurotherapeutics
, vol.11
, pp. 796-806
-
-
Esmaeeli Nieh, S.1
Sherr, E.H.2
-
3
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Epi4K Consortium, Epilepsy Phenome/Genome Project
-
Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, et al., De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
Allen, A.S.1
-
4
-
-
84921803785
-
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
-
EuroEPINOMICS-RES Consortium, Epi4K Consortium, Epilepsy Phenome/Genome Project.
-
EuroEPINOMICS-RES Consortium, Epi4K Consortium, Epilepsy Phenome/Genome Project. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 2014; 95: 360-370.
-
(2014)
Am J Hum Genet
, vol.95
, pp. 360-370
-
-
-
5
-
-
0024502803
-
Benign familial neonatal convulsions linked to genetic markers on chromosome 20
-
Leppert M, Anderson VE, Quattlebaum T, et al., Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989; 337: 647-648.
-
(1989)
Nature
, vol.337
, pp. 647-648
-
-
Leppert, M.1
Anderson, V.E.2
Quattlebaum, T.3
-
6
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated an inherited epilepsy of newborns
-
Singh NA, Charlier C, Stauffer D., et al., A novel potassium channel gene, KCNQ2, is mutated an inherited epilepsy of newborns. Nat Genet 1998; 18: 25-29.
-
(1998)
Nat Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
-
7
-
-
0032911049
-
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions
-
Biervert C, Steinlein OK,. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet 1999; 104: 234-240.
-
(1999)
Hum Genet
, vol.104
, pp. 234-240
-
-
Biervert, C.1
Steinlein, O.K.2
-
8
-
-
84856147573
-
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
-
Weckhuysen S, Mandelstam S, Suls A, et al., KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012; 71: 15-25.
-
(2012)
Ann Neurol
, vol.71
, pp. 15-25
-
-
Weckhuysen, S.1
Mandelstam, S.2
Suls, A.3
-
9
-
-
84888219819
-
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
-
Weckhuysen S, Ivanovic V, Hendrickx R, et al., Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013; 81: 1697-1703.
-
(2013)
Neurology
, vol.81
, pp. 1697-1703
-
-
Weckhuysen, S.1
Ivanovic, V.2
Hendrickx, R.3
-
10
-
-
84878005306
-
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
-
Milh M, Boutry-Kryza N, Sutera-Sardo J, et al., Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet J Rare Dis 2013; 8: 80.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 80
-
-
Milh, M.1
Boutry-Kryza, N.2
Sutera-Sardo, J.3
-
11
-
-
84895767176
-
KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response
-
Numis AL, Angriman M, Sullivan JE, et al., KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology 2014; 82: 368-370.
-
(2014)
Neurology
, vol.82
, pp. 368-370
-
-
Numis, A.L.1
Angriman, M.2
Sullivan, J.E.3
-
12
-
-
84879684377
-
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
-
Carvill GL, Heavin SB, Yendle SC, et al., Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013; 45: 825-830.
-
(2013)
Nat Genet
, vol.45
, pp. 825-830
-
-
Carvill, G.L.1
Heavin, S.B.2
Yendle, S.C.3
-
13
-
-
35148846497
-
Infant developmental milestones and subsequent cognitive function
-
Murray G, Jones P, Kuh D, et al., Infant developmental milestones and subsequent cognitive function. Ann Neurol 2007; 62: 128-136.
-
(2007)
Ann Neurol
, vol.62
, pp. 128-136
-
-
Murray, G.1
Jones, P.2
Kuh, D.3
-
14
-
-
0002109095
-
Neonatal seizures
-
Volpe J.J. (Ed). 5th Ed. Philadelphia, PA: WB Saunders.
-
Volpe JJ,. Neonatal seizures. In, Volpe JJ, (Ed) Neonatal neurology. 5th Ed. Philadelphia, PA: WB Saunders, 2008: 203-244.
-
(2008)
Neonatal Neurology
, pp. 203-244
-
-
Volpe, J.J.1
-
15
-
-
84879757310
-
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
-
Kato M, Yamagata T, Kubota M, et al., Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013; 54: 1282-1287.
-
(2013)
Epilepsia
, vol.54
, pp. 1282-1287
-
-
Kato, M.1
Yamagata, T.2
Kubota, M.3
-
16
-
-
84880461745
-
Video/EEG findings in a KCNQ2 epileptic encephalopathy: A case report and revision of literature data
-
Serino D, Specchio N, Pontrelli G, et al., Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data. Epileptic Disord 2013; 15: 158-165.
-
(2013)
Epileptic Disord
, vol.15
, pp. 158-165
-
-
Serino, D.1
Specchio, N.2
Pontrelli, G.3
-
17
-
-
84875007573
-
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits
-
Miceli F, Soldovieri MV, Ambrosino P, et al., Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. Proc Natl Acad Sci U S A 2013; 110: 4386-4391.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 4386-4391
-
-
Miceli, F.1
Soldovieri, M.V.2
Ambrosino, P.3
-
18
-
-
18244425608
-
Carbamazepine inhibits L-type Ca2+ channels in cultured rat hippocampal neurons stimulated with glutamate receptor agonists
-
Ambrõsio AF, Silva AP, Malva JO, et al., Carbamazepine inhibits L-type Ca2+ channels in cultured rat hippocampal neurons stimulated with glutamate receptor agonists. Neuropharmacology 2010; 38: 1349-1359.
-
(2010)
Neuropharmacology
, vol.38
, pp. 1349-1359
-
-
Ambrõsio, A.F.1
Silva, A.P.2
Malva, J.O.3
-
19
-
-
84878253758
-
CNS pharmacotherapy of focal epilepsy in children: A systematic review of approved agents
-
Arya R, Glauser TA,. CNS pharmacotherapy of focal epilepsy in children: a systematic review of approved agents. Drugs 2013; 27: 273-286.
-
(2013)
Drugs
, vol.27
, pp. 273-286
-
-
Arya, R.1
Glauser, T.A.2
-
20
-
-
33644819526
-
A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon
-
Pan Z, Kao T, Horvath Z, et al., A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. J Neurosci 2006; 26: 2599-2613.
-
(2006)
J Neurosci
, vol.26
, pp. 2599-2613
-
-
Pan, Z.1
Kao, T.2
Horvath, Z.3
-
21
-
-
84868579625
-
Modulation of voltage-gated K+ channels by the sodium channel ß1 subunit
-
Nguyen HM, Miyazaki H, Hoshi N, et al., Modulation of voltage-gated K+ channels by the sodium channel ß1 subunit. Proc Natl Acad Sci U S A 2012; 109: 18577-18582.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 18577-18582
-
-
Nguyen, H.M.1
Miyazaki, H.2
Hoshi, N.3
-
22
-
-
0003150278
-
An overview of the preclinical aspects of topiramate: Pharmacology, pharmacokinetics, and mechanism of action
-
Shank RP, Gardocki JF, Streeter AJ, et al., An overview of the preclinical aspects of topiramate: pharmacology, pharmacokinetics, and mechanism of action. Epilepsia 2000; 41: 3-9.
-
(2000)
Epilepsia
, vol.41
, pp. 3-9
-
-
Shank, R.P.1
Gardocki, J.F.2
Streeter, A.J.3
-
23
-
-
79952554789
-
Levetiracetam: A review of its use in epilepsy
-
Lyseng-Williamson KA,. Levetiracetam: a review of its use in epilepsy. Drugs 2011; 71: 489-514.
-
(2011)
Drugs
, vol.71
, pp. 489-514
-
-
Lyseng-Williamson, K.A.1
-
24
-
-
78650722317
-
Neuronal potassium channel openers in the management of epilepsy: Role and potential of retigabine
-
Barrese V, Miceli F, Soldovieri MV, et al., Neuronal potassium channel openers in the management of epilepsy: role and potential of retigabine. Clin Pharmacol 2010; 2: 225-236.
-
(2010)
Clin Pharmacol
, vol.2
, pp. 225-236
-
-
Barrese, V.1
Miceli, F.2
Soldovieri, M.V.3
-
25
-
-
84857646270
-
The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy
-
Gunthorpe MJ, Large CH, Sankar R,. The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy. Epilepsia 2012; 53: 412-424.
-
(2012)
Epilepsia
, vol.53
, pp. 412-424
-
-
Gunthorpe, M.J.1
Large, C.H.2
Sankar, R.3
-
26
-
-
84923370555
-
Efficacy of retigabine in adjunctive treatment of partial onset seizures in adults
-
Splinter MY,. Efficacy of retigabine in adjunctive treatment of partial onset seizures in adults. J Cent Nerv Syst Dis 2013; 5: 31-41.
-
(2013)
J Cent Nerv Syst Dis
, vol.5
, pp. 31-41
-
-
Splinter, M.Y.1
|