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Neuronal migration disorders.
Neurobiology of disease May, 2010 | Pubmed ID: 19245832
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Brain : a journal of neurology Nov, 2013 | Pubmed ID: 24056535
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Journal of medical genetics Jun, 2015 | Pubmed ID: 25755106
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
The Lancet. Neurology Dec, 2015 | Pubmed ID: 26520804
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.
Neurology Mar, 2016 | Pubmed ID: 26944271
Genetic Basis of Brain Malformations.
Molecular syndromology Sep, 2016 | Pubmed ID: 27781032
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Human mutation Feb, 2017 | Pubmed ID: 27864847
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Molecular diagnosis & therapy Aug, 2017 | Pubmed ID: 28197949
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
Neurology Mar, 2017 | Pubmed ID: 28202706
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Neurology. Genetics Apr, 2017 | Pubmed ID: 28357411
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain : a journal of neurology Sep, 2017 | Pubmed ID: 29050398
Valerio Conti*,1,
Aurelie Carabalona*,2,3,15,
Emilie Pallesi-Pocachard2,3,4,
Richard J. Leventer5,6,7,
Fabienne Schaller2,3,8,
Elena Parrini1,
Agathe A. Deparis2,3,
Françoise Watrin2,3,
Emmanuelle Buhler2,3,8,
Francesca Novara9,
Stefano Lise10,
Alistair T. Pagnamenta10,
Usha Kini11,
Jenny C. Taylor10,
Orsetta Zuffardi9,12,
Alfonso Represa2,3,
David Antony Keays13,
Renzo Guerrini1,14,
Antonio Falace2,3,
Carlos Cardoso2,3
1, University of Florence,
2, INSERM INMED,
3, Aix-Marseille University,
4, Plateforme Biologie Moléculaire et Cellulaire INMED,
5, Royal Children's Hospital,
6, Murdoch Children's Research Institute,
7, University of Melbourne,
8, Plateforme postgenomique INMED,
9, University of Pavia,
10, Wellcome Trust Centre for Human Genetics,
11, Oxford Radcliffe NHS Trust,
12, IRCCS Casimiro Mondino Foundation,
13, Research Institute of Molecular Pathology,
14, IRCCS Stella Maris,
15, Columbia University
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