-
1
-
-
0031454558
-
Rett syndrome: epidemiology and geographical variability
-
Hagberg B., Hagberg G. Rett syndrome: epidemiology and geographical variability. Eur Child Adolesc Psychiatry 1997, 6:S5-S7.
-
(1997)
Eur Child Adolesc Psychiatry
, vol.6
-
-
Hagberg, B.1
Hagberg, G.2
-
2
-
-
0037002625
-
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
-
Hagberg B., Hanefeld F., Percy A., Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol 2002, 6:293-297.
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
3
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999, 23:185-188.
-
(1999)
Nat Genet
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
4
-
-
0034701999
-
MECP2 mutations account for most cases of typical forms of Rett syndrome
-
Bienvenu T., Carrie A., De Roux N., et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000, 9:1377-1384.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1377-1384
-
-
Bienvenu, T.1
Carrie, A.2
De Roux, N.3
-
5
-
-
13444263520
-
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
-
Scala E., Ariani F., Mari F., et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005, 42:103-107.
-
(2005)
J Med Genet
, vol.42
, pp. 103-107
-
-
Scala, E.1
Ariani, F.2
Mari, F.3
-
6
-
-
46149122036
-
FOXG1 is responsible for the congenital variant of Rett syndrome
-
Ariani F., Hayek G., Rondinella D., et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008, 83:89-93.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 89-93
-
-
Ariani, F.1
Hayek, G.2
Rondinella, D.3
-
7
-
-
33749127889
-
Predictors of seizure onset in Rett syndrome
-
Jian L., Nagarajan L., de Klerk N., et al. Predictors of seizure onset in Rett syndrome. J Pediatr 2006, 149:542-547.
-
(2006)
J Pediatr
, vol.149
, pp. 542-547
-
-
Jian, L.1
Nagarajan, L.2
de Klerk, N.3
-
8
-
-
38849127577
-
Parental view of epilepsy in Rett syndrome
-
Bahi-Buisson N., Guellec I., Nabbout R., et al. Parental view of epilepsy in Rett syndrome. Brain Dev 2008, 30:126-130.
-
(2008)
Brain Dev
, vol.30
, pp. 126-130
-
-
Bahi-Buisson, N.1
Guellec, I.2
Nabbout, R.3
-
9
-
-
34547589128
-
Seizures in Rett syndrome: an overview from a one-year calendar study
-
Jian L., Nagarajan L., de Klerk N., Ravine D., Christodoulou J., Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol 2007, 11:310-317.
-
(2007)
Eur J Paediatr Neurol
, vol.11
, pp. 310-317
-
-
Jian, L.1
Nagarajan, L.2
de Klerk, N.3
Ravine, D.4
Christodoulou, J.5
Leonard, H.6
-
10
-
-
33846163122
-
Treatment of epilepsy in Rett syndrome
-
Huppke P., Köhler K., Brockmann K., Stettner G.M., Gärtner J. Treatment of epilepsy in Rett syndrome. Eur J Paediatr Neurol 2007, 11:10-16.
-
(2007)
Eur J Paediatr Neurol
, vol.11
, pp. 10-16
-
-
Huppke, P.1
Köhler, K.2
Brockmann, K.3
Stettner, G.M.4
Gärtner, J.5
-
11
-
-
77950503200
-
Epilepsy and the natural history of Rett syndrome
-
Glaze D.G., Percy A.K., Skinner S., et al. Epilepsy and the natural history of Rett syndrome. Neurology 2010, 74:909-912.
-
(2010)
Neurology
, vol.74
, pp. 909-912
-
-
Glaze, D.G.1
Percy, A.K.2
Skinner, S.3
-
12
-
-
45949096771
-
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
-
Nectoux J., Bahi-Buisson N., Guellec I., et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 2008, 70:2145-2151.
-
(2008)
Neurology
, vol.70
, pp. 2145-2151
-
-
Nectoux, J.1
Bahi-Buisson, N.2
Guellec, I.3
-
13
-
-
65249169270
-
The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
-
Zeev B.B., Bebbington A., Ho G., et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 2009, 72:1242-1247.
-
(2009)
Neurology
, vol.72
, pp. 1242-1247
-
-
Zeev, B.B.1
Bebbington, A.2
Ho, G.3
-
14
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
-
for the International League against Epilepsy ILAE
-
Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:796-803. for the International League against Epilepsy ILAE.
-
(2001)
Epilepsia
, vol.42
, pp. 796-803
-
-
Engel, J.1
-
15
-
-
33645278654
-
Defining intractability: comparisons among published definitions
-
Berg A.T., Kelly M.M. Defining intractability: comparisons among published definitions. Epilepsia 2006, 47:431-436.
-
(2006)
Epilepsia
, vol.47
, pp. 431-436
-
-
Berg, A.T.1
Kelly, M.M.2
-
16
-
-
54949090865
-
Key clinical features to identify girls with CDKL5 mutations
-
Bahi-Buisson N., Nectoux J., Rosas-Vargas H., et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008, 131:2647-2661.
-
(2008)
Brain
, vol.131
, pp. 2647-2661
-
-
Bahi-Buisson, N.1
Nectoux, J.2
Rosas-Vargas, H.3
-
17
-
-
44849144752
-
The three stages of epilepsy in patients with CDKL5 mutations
-
Bahi-Buisson N., Kaminska A., Boddaert N., et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008, 49:1027-1037.
-
(2008)
Epilepsia
, vol.49
, pp. 1027-1037
-
-
Bahi-Buisson, N.1
Kaminska, A.2
Boddaert, N.3
-
18
-
-
37749019135
-
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature
-
Pintaudi M., Baglietto M.G., Gaggero R., et al. Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav 2008, 12:326-331.
-
(2008)
Epilepsy Behav
, vol.12
, pp. 326-331
-
-
Pintaudi, M.1
Baglietto, M.G.2
Gaggero, R.3
-
19
-
-
27144463130
-
Early onset seizures and Rett-like features associated with mutations in CDKL5
-
Evans J.C., Archer H.L., Colley J.P., et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 2005, 13:1113-1120.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1113-1120
-
-
Evans, J.C.1
Archer, H.L.2
Colley, J.P.3
-
20
-
-
71849094595
-
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria
-
Artuso R., Mencarelli M.A., Polli R., et al. Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev 2010, 32:17-24.
-
(2010)
Brain Dev
, vol.32
, pp. 17-24
-
-
Artuso, R.1
Mencarelli, M.A.2
Polli, R.3
-
21
-
-
0035130914
-
Epilepsy in a representative series of Rett syndrome
-
Steffenburg U., Hagberg G., Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr 2001, 90:34-39.
-
(2001)
Acta Paediatr
, vol.90
, pp. 34-39
-
-
Steffenburg, U.1
Hagberg, G.2
Hagberg, B.3
-
22
-
-
33846613245
-
Rett syndrome: clinical and electrophysiologic aspects
-
Moser S.J., Weber P., Lütschg J. Rett syndrome: clinical and electrophysiologic aspects. Pediatr Neurol 2007, 36:95-100.
-
(2007)
Pediatr Neurol
, vol.36
, pp. 95-100
-
-
Moser, S.J.1
Weber, P.2
Lütschg, J.3
-
23
-
-
33645466809
-
People with MECP2 mutation-positive Rett disorder who converse
-
Kerr A.M., Archer H.L., Evans J.C., Prescott R.J., Gibbon F. People with MECP2 mutation-positive Rett disorder who converse. J Intellect Disabil Res 2006, 50:386-394.
-
(2006)
J Intellect Disabil Res
, vol.50
, pp. 386-394
-
-
Kerr, A.M.1
Archer, H.L.2
Evans, J.C.3
Prescott, R.J.4
Gibbon, F.5
-
24
-
-
59149093556
-
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
-
Renieri A., Mari F., Mencarelli M.A., et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev 2009, 31:208-216.
-
(2009)
Brain Dev
, vol.31
, pp. 208-216
-
-
Renieri, A.1
Mari, F.2
Mencarelli, M.A.3
-
25
-
-
54349096983
-
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome
-
Buoni S., Zannolli R., Felice C.D., et al. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clin Neurophysiol 2008, 119:2455-2458.
-
(2008)
Clin Neurophysiol
, vol.119
, pp. 2455-2458
-
-
Buoni, S.1
Zannolli, R.2
Felice, C.D.3
|