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dc.contributor.authorGardella, Elena-
dc.contributor.authorMarini, Carla-
dc.contributor.authorTrivisano, Marina-
dc.contributor.authorFitzgerald, Mark P-
dc.contributor.authorAlber, Michael-
dc.contributor.authorHowell, Katherine B-
dc.contributor.authorDarra, Francesca-
dc.contributor.authorSiliquini, Sabrina-
dc.contributor.authorBölsterli, Bigna K-
dc.contributor.authorMasnada, Silva-
dc.contributor.authorPichiecchio, Anna-
dc.contributor.authorJohannesen, Katrine M-
dc.contributor.authorJepsen, Birgit-
dc.contributor.authorFontana, Elena-
dc.contributor.authorAnibaldi, Gaia-
dc.contributor.authorRusso, Silvia-
dc.contributor.authorCogliati, Francesca-
dc.contributor.authorMontomoli, Martino-
dc.contributor.authorSpecchio, Nicola-
dc.contributor.authorRubboli, Guido-
dc.contributor.authorVeggiotti, Pierangelo-
dc.contributor.authorBeniczky, Sandor-
dc.contributor.authorWolff, Markus-
dc.contributor.authorHelbig, Ingo-
dc.contributor.authorVigevano, Federico-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorGuerrini, Renzo-
dc.contributor.authorMøller, Rikke S-
dc.identifier.citationNeurology 2018; 91(12): e1112-e1124-
dc.description.abstractTo delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (<20 minutes) with (1) cyanosis, hypomotor, and vegetative semiology, sometimes unnoticed, followed by (2) tonic-vibratory and (3) (hemi)-clonic manifestations ± evolution to a bilateral tonic-clonic seizure. FS had posterior-temporal/occipital onset, slowly spreading and sometimes migrating between hemispheres. Brain MRI showed progressive parenchymal atrophy and restriction of the optic radiations. SCN8A developmental and epileptic encephalopathy has strikingly consistent electroclinical features, suggesting a global progressive brain dysfunction primarily affecting the temporo-occipital regions. Both uncontrolled epilepsy and developmental compromise contribute to the profound impairment (increasing risk of death) during early childhood, but stabilization occurs in late childhood.-
dc.titleThe phenotype of SCN8A developmental and epileptic encephalopathy.-
dc.typeJournal Article-
dc.identifier.affiliationUniversitätskinderklinik Tübingen, Germanyen
dc.identifier.affiliationDepartment of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark-
dc.identifier.affiliationInstitute for Regional Health Services, University of Southern Denmark, Odense, Denmark-
dc.identifier.affiliationNeuroscience Department, Children's Hospital A. Meyer, University of Florence, Italy-
dc.identifier.affiliationDepartment of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy-
dc.identifier.affiliationDivision of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA-
dc.identifier.affiliationDepartments of Pediatrics and Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia-
dc.identifier.affiliationDepartment of Neurology, Royal Children's Hospital Melbourne, Melbourne, Australia-
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, Australia-
dc.identifier.affiliationAustralia Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia-
dc.identifier.affiliationServizio di Neuropsichiatria Infantile, Policlinico G.B. Rossi, Universita Degli Studi di Verona, Italy-
dc.identifier.affiliationDepartment of Child Neurology, Ospedale Pediatrico G. Salesi-Ospedali Riuniti, Ancona, Italy-
dc.identifier.affiliationDivision of Clinical Neurophysiology, Children's Research Center, University Children's Hospital Zurich, Switzerland-
dc.identifier.affiliationBrain and Behaviour Department, University of Pavia, Pavia, Italy-
dc.identifier.affiliationDepartment of Pediatric Neuroradiology, IRCCS "C. Mondino" National Neurological Institute, Pavia, Italy-
dc.identifier.affiliationDepartment of Epilepsy Genetics, Danish Epilepsy Centre Dianalund, Dianalund, Denmark-
dc.identifier.affiliationDepartment of Child Neurology, Danish Epilepsy Centre, Dianalund, Denmark-
dc.identifier.affiliationCytogenetic and Molecular Genetic Laboratory, Istituto Auxologico Italiano, IRCCS, Milano, Italy-
dc.identifier.affiliationDepartment of Adult Neurology, Danish Epilepsy Centre, Dianalund, Denmark-
dc.identifier.affiliationUniversity of Copenhagen, Denmark-
dc.identifier.affiliationStruttura Complessa di Neurologia Pediatrica Ospedale Vittore Buzzi, Milano, Italy-
dc.identifier.affiliationDipartimento di Scienze Biomediche e Cliniche L. Sacco, Università di Milano, Italy-
dc.identifier.affiliationÅrhus University, Denmark-
dc.identifier.affiliationDepartment of Child Neurology, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia-
dc.identifier.affiliationDepartment of Child Neurology, The Royal Children's Hospital, Melbourne, Australia-
dc.type.austinJournal Article-, Ingrid E
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.openairecristype Research Centre-
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