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American Journal of Medical Genetics. Part A|May 31, 2019
Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathyCheryl Shoubridge, Matilda Jackson, Bronwyn Grinton, et al.Epilepsia|March 28, 2007
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrumEric Herlenius, Sarah E Heron, Bronwyn E Grinton, et al.Archives of Neurology|May 10, 2006
Distinguishing sleep disorders from seizures: diagnosing bumps in the nightChristopher Paul Derry, Margot Davey, Murray Johns, et al.Neurology Research International|July 26, 2011
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile SeizuresJohn C Mulley, Xenia Iona, Bree Hodgson, et al.The Lancet. Neurology|May 8, 2010
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective studyAnne M McIntosh, Jacinta McMahon, Leanne M Dibbens, et al.Neurology|August 3, 2014
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy casesRichard D Bagnall, Douglas E Crompton, Carina Cutmore, et al.American Journal of Medical Genetics. Part A|May 21, 2013
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsyAlexander G Bassuk, Eileen Geraghty, Shu Wu, et al.Epilepsia|January 14, 2017
De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndromeKenneth A Myers, Rosemary Burgess, Zaid Afawi, et al.Epilepsy & Behavior : E&B|March 2, 2010
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsyAmanda G Wood, Michael M Saling, Marco Fedi, et al.Plos One|January 21, 2018
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhoodKenneth A Myers, Amelia McGlade, Bernd A Neubauer, et al.Pageof 73