Follow
dilsad turkdogan
dilsad turkdogan
Verified email at marmara.edu.tr
Title
Cited by
Cited by
Year
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13622018
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
8352008
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
5112017
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
CD Whelan, A Altmann, JA Botía, N Jahanshad, DP Hibar, J Absil, ...
Brain 141 (2), 391-408, 2018
4102018
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro, P Veggiotti, C Marini, ...
Brain 129 (7), 1892-1906, 2006
3642006
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
3162014
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
3082016
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2822015
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
2632018
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ...
The American Journal of Human Genetics 93 (5), 967-975, 2013
2472013
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
2452014
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
2372013
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2302019
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug‐refractory epilepsy
MP Canevini, G De Sarro, CA Galimberti, G Gatti, L Licchetta, A Malerba, ...
Epilepsia 51 (5), 797-804, 2010
2172010
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ...
The American Journal of Human Genetics 96 (5), 808-815, 2015
2132015
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
D Kasperavičiūtė, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, ...
Brain 136 (10), 3140-3150, 2013
1932013
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
C Marini, IE Scheffer, R Nabbout, D Mei, K Cox, LM Dibbens, ...
Epilepsia 50 (7), 1670-1678, 2009
1912009
The landscape of epilepsy-related GATOR1 variants
S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ...
Genetics in Medicine 21 (2), 398-408, 2019
1882019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1842019
Consensus on diagnosis and management of JME: from founder's observations to current trends
DGAKN Trenité, B Schmitz, D Janz, AV Delgado-Escueta, P Thomas, ...
Epilepsy & Behavior 28, S87-S90, 2013
1822013
The system can't perform the operation now. Try again later.
Articles 1–20