Підписатись
Katherine L. Helbig
Katherine L. Helbig
The Children's Hospital of Philadelphia
Підтверджена електронна адреса в email.chop.edu
Назва
Посилання
Посилання
Рік
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ...
Nature genetics 41 (2), 160-162, 2009
6732009
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
5062017
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
KL Helbig, KD Farwell Hagman, DN Shinde, C Mroske, Z Powis, S Li, ...
Genetics in Medicine 18 (9), 898-905, 2016
3532016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
3052016
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
2592018
Distinguishing sleep disorders from seizures: diagnosing bumps in the night
CP Derry, M Davey, M Johns, K Kron, D Glencross, C Marini, IE Scheffer, ...
Archives of neurology 63 (5), 705-709, 2006
2382006
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
2242019
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
2142017
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
1812016
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ...
Brain 142 (1), 80-92, 2019
1692019
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1442017
Genetic epilepsy with febrile seizures plus: Refining the spectrum
YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ...
Neurology 89 (12), 1210-1219, 2017
1442017
Phenotypic spectrum of GABRA1 From generalized epilepsies to severe epileptic encephalopathies
K Johannesen, C Marini, S Pfeffer, RS Møller, T Dorn, CE Niturad, ...
Neurology 87 (11), 1140-1151, 2016
1442016
Defining the phenotypic spectrum of SLC6A1 mutations
KM Johannesen, E Gardella, T Linnankivi, C Courage, A de Saint Martin, ...
Epilepsia 59 (2), 389-402, 2018
1172018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ...
Brain 141 (11), 3160-3178, 2018
1152018
De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias
KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ...
The American Journal of Human Genetics 103 (5), 666-678, 2018
1102018
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease
S Zagaglia, C Selch, JR Nisevic, D Mei, Z Michalak, ...
Neurology 91 (22), e2078-e2088, 2018
1072018
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability
Y Liu, J Schubert, L Sonnenberg, KL Helbig, CE Hoei-Hansen, M Koko, ...
Brain 142 (2), 376-390, 2019
1042019
Mutations in SCN3A cause early infantile epileptic encephalopathy
T Zaman, I Helbig, IB Božović, SD DeBrosse, AC Bergqvist, K Wallis, ...
Annals of neurology 83 (4), 703-717, 2018
932018
Classification of genes: standardized clinical validity assessment of gene–disease associations aids diagnostic exome analysis and reclassifications
ED Smith, K Radtke, M Rossi, DN Shinde, S Darabi, D El‐Khechen, ...
Human mutation 38 (5), 600-608, 2017
912017
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