| KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ... Annals of neurology 71 (1), 15-25, 2012 | 557 | 2012 |
| Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients RJ Leventer, A Jansen, DT Pilz, N Stoodley, C Marini, F Dubeau, ... Brain 133 (5), 1415-1427, 2010 | 274 | 2010 |
| Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations IE Scheffer, SE Heron, BM Regan, S Mandelstam, DE Crompton, ... Annals of neurology 75 (5), 782-787, 2014 | 264 | 2014 |
| Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy G Orhan, M Bock, D Schepers, EI Ilina, SN Reichel, H Löffler, N Jezutkovic, ... Annals of neurology 75 (3), 382-394, 2014 | 261 | 2014 |
| SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures KB Howell, JM McMahon, GL Carvill, D Tambunan, MT Mackay, ... Neurology 85 (11), 958-966, 2015 | 253 | 2015 |
| 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 | 238 | 2013 |
| Complementary use of radiological skeletal survey and bone scintigraphy in detection of bony injuries in suspected child abuse SA Mandelstam, D Cook, M Fitzgerald, MR Ditchfield Archives of disease in childhood 88 (5), 387-390, 2003 | 158 | 2003 |
| Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 JC Sim, T Scerri, M Fanjul‐Fernández, JR Riseley, G Gillies, K Pope, ... Annals of neurology 79 (1), 132-137, 2016 | 147 | 2016 |
| ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 135 | 2017 |
| Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ... Neurology 89 (10), 1035-1042, 2017 | 128 | 2017 |
| Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy DT Pederick, KL Richards, SG Piltz, R Kumar, S Mincheva-Tasheva, ... Neuron 97 (1), 59-66. e5, 2018 | 126 | 2018 |
| Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5 T Scerri, JR Riseley, G Gillies, K Pope, R Burgess, SA Mandelstam, ... Annals of clinical and translational neurology 2 (5), 575-580, 2015 | 118 | 2015 |
| The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia AS Harvey, SA Mandelstam, WJ Maixner, RJ Leventer, M Semmelroch, ... Neurology 84 (20), 2021-2028, 2015 | 108 | 2015 |
| A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy KB Howell, S Eggers, K Dalziel, J Riseley, S Mandelstam, CT Myers, ... Epilepsia 59 (6), 1177-1187, 2018 | 105 | 2018 |
| CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures RH Thomas, LM Zhang, GL Carvill, JS Archer, SB Heavin, ... Neurology 84 (9), 951-958, 2015 | 100 | 2015 |
| Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance APL Marsh, D Heron, TJ Edwards, A Quartier, C Galea, C Nava, ... Nature genetics 49 (4), 511-514, 2017 | 97 | 2017 |
| Angiographic features of 26 children with Takayasu's arteritis M McCulloch, S Andronikou, E Goddard, P Sinclair, J Lawrenson, ... Pediatric radiology 33, 230-235, 2003 | 95 | 2003 |
| Australian clinical consensus guideline: the diagnosis and acute management of childhood stroke TL Medley, C Miteff, I Andrews, T Ware, M Cheung, P Monagle, ... International Journal of Stroke 14 (1), 94-106, 2019 | 89 | 2019 |
| GRIN2A An aptly named gene for speech dysfunction SJ Turner, AK Mayes, A Verhoeven, SA Mandelstam, AT Morgan, ... Neurology 84 (6), 586-593, 2015 | 80 | 2015 |
| Anterior temporal changes on MR images of children with hippocampal sclerosis: an effect of seizures on the immature brain? LA Mitchell, AS Harvey, LT Coleman, SA Mandelstam, GD Jackson American Journal of Neuroradiology 24 (8), 1670-1677, 2003 | 80 | 2003 |
