-
1
-
-
84874671111
-
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
-
Zara F, Specchio N, Striano P, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013;54:425-436.
-
(2013)
Epilepsia
, vol.54
, pp. 425-436
-
-
Zara, F.1
Specchio, N.2
Striano, P.3
-
2
-
-
59649106592
-
Genetics of epilepsy syndromes starting in the first year of life
-
Deprez L, Jansen A, De Jonghe P. Genetics of epilepsy syndromes starting in the first year of life. Neurology 2009;72:273-281.
-
(2009)
Neurology
, vol.72
, pp. 273-281
-
-
Deprez, L.1
Jansen, A.2
De Jonghe, P.3
-
3
-
-
84875868732
-
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: A European case
-
Fister P, Soltirovska-Salamon A, Debeljak M, et al. Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. Eur J Paediatr Neurol 2013;17:308-310.
-
(2013)
Eur J Paediatr Neurol
, vol.17
, pp. 308-310
-
-
Fister, P.1
Soltirovska-Salamon, A.2
Debeljak, M.3
-
4
-
-
84876374927
-
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures
-
Pascual KT, Wierenga KJ, Ng YT. Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. Epilepsy Behav Case Rep 2013;1:135-138.
-
(2013)
Epilepsy Behav Case Rep
, vol.1
, pp. 135-138
-
-
Pascual, K.T.1
Wierenga, K.J.2
Ng, Y.T.3
-
5
-
-
33847216238
-
Benign familial neonatal convulsions: Always benign?
-
Steinlein OK, Conrad C, Weidner B. Benign familial neonatal convulsions: always benign? Epilepsy Res 2007;73:245-249.
-
(2007)
Epilepsy Res
, vol.73
, pp. 245-249
-
-
Steinlein, O.K.1
Conrad, C.2
Weidner, B.3
-
6
-
-
0038059165
-
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2
-
Dedek K, Fusco L, Teloy N, et al. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 2003;54:21-27.
-
(2003)
Epilepsy Res
, vol.54
, pp. 21-27
-
-
Dedek, K.1
Fusco, L.2
Teloy, N.3
-
7
-
-
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
-
8
-
-
84888219819
-
KCNQ2 Study Group. Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
-
Weckhuysen S, Ivanovic V, Hendrickx R. KCNQ2 Study Group. 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
-
9
-
-
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
-
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
-
-
84865611065
-
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome
-
Saitsu H, Kato M, Koide A, et al. Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 2012;72:298-300.
-
(2012)
Ann Neurol
, vol.72
, pp. 298-300
-
-
Saitsu, H.1
Kato, M.2
Koide, A.3
-
12
-
-
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;2:368-370.
-
(2014)
Neurology
, vol.2
, pp. 368-370
-
-
Numis, A.L.1
Angriman, M.2
Sullivan, J.E.3
-
13
-
-
84897970738
-
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
-
Orhan G, Bock M, Schepers D, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2014;75:382-394.
-
(2014)
Ann Neurol
, vol.75
, pp. 382-394
-
-
Orhan, G.1
Bock, M.2
Schepers, D.3
-
14
-
-
67650471424
-
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions
-
Volkers L, Rook MB, Das JH, et al. Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. Neurosci Lett 2009;462:24-29.
-
(2009)
Neurosci Lett
, vol.462
, pp. 24-29
-
-
Volkers, L.1
Rook, M.B.2
Das, J.H.3
-
15
-
-
40149106276
-
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions
-
Li H, Li N, Shen L, et al. A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. Epilepsy Res 2008;79:1-5.
-
(2008)
Epilepsy Res
, vol.79
, pp. 1-5
-
-
Li, H.1
Li, N.2
Shen, L.3
-
16
-
-
84893921173
-
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: First evidence for an altered channel regulation by Syntaxin- 1A
-
Soldovieri MV, Boutry-Kryza N, Milh M, et al. Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by Syntaxin- 1A. Hum Mutat 2014;35:356-367.
-
(2014)
Hum Mutat
, vol.35
, pp. 356-367
-
-
Soldovieri, M.V.1
Boutry-Kryza, N.2
Milh, M.3
-
17
-
-
70350144535
-
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures
-
Kurahashi H, Wang JW, Ishii A, et al. Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology 2009;73:1214-1217.
-
(2009)
Neurology
, vol.73
, pp. 1214-1217
-
-
Kurahashi, H.1
Wang, J.W.2
Ishii, A.3
-
18
-
-
34547643612
-
A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features
-
Béna F, Bottani A, Marcelli F, et al. A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features. Am J Med Genet A 2007;143A:1894-1899.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1894-1899
-
-
Béna, F.1
Bottani, A.2
Marcelli, F.3
-
19
-
-
25644452851
-
Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20
-
Ardalan A, Prieur M, Choiset A, et al. Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20. Am J Med Genet A 2005;138A:288-293.
-
(2005)
Am J Med Genet A
, vol.138 A
, pp. 288-293
-
-
Ardalan, A.1
Prieur, M.2
Choiset, A.3
-
20
-
-
84870245633
-
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy
-
Mefford HC, Cook J, Gospe SM Jr. Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. Am J Med Genet A 2012;158A:3190-3195.
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 3190-3195
-
-
Mefford, H.C.1
Cook, J.2
Gospe, S.M.3
-
21
-
-
77957909505
-
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
-
Traylor RN, Bruno DL, Burgess T, et al. A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS ONE 2010;5:e12462.
-
(2010)
PLoS ONE
, vol.5
-
-
Traylor, R.N.1
Bruno, D.L.2
Burgess, T.3
-
22
-
-
33947642082
-
Genotype- phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: A collaborative study on behalf of the 'association des Cytogénéticiens de langue Francáise'
-
Béri-Deixheimer M, Gregoire MJ, Toutain A, et al. Genotype- phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Francáise'. Eur J Hum Genet 2007;15:446-452.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 446-452
-
-
Béri-Deixheimer, M.1
Gregoire, M.J.2
Toutain, A.3
-
23
-
-
84870269173
-
KCNQ2 potassium channel epileptic encephalopathy syndrome: Divorce of an electro-mechanical couple?
-
Millichap JJ, Cooper EC. KCNQ2 potassium channel epileptic encephalopathy syndrome: divorce of an electro-mechanical couple? Epilepsy Curr 2012;12:150-152.
-
(2012)
Epilepsy Curr
, vol.12
, pp. 150-152
-
-
Millichap, J.J.1
Cooper, E.C.2
-
24
-
-
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 USA 2013;110:4386-4391.
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 4386-4391
-
-
Miceli, F.1
Soldovieri, M.V.2
Ambrosino, P.3
|