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Title: The phenotype of SCN8A developmental and epileptic encephalopathy.
Austin Authors: Gardella, Elena;Marini, Carla;Trivisano, Marina;Fitzgerald, Mark P;Alber, Michael;Howell, Katherine B;Darra, Francesca;Siliquini, Sabrina;Bölsterli, Bigna K;Masnada, Silva;Pichiecchio, Anna;Johannesen, Katrine M;Jepsen, Birgit;Fontana, Elena;Anibaldi, Gaia;Russo, Silvia;Cogliati, Francesca;Montomoli, Martino;Specchio, Nicola;Rubboli, Guido;Veggiotti, Pierangelo;Beniczky, Sandor;Wolff, Markus;Helbig, Ingo;Vigevano, Federico;Scheffer, Ingrid E ;Guerrini, Renzo;Møller, Rikke S
Affiliation: Universitätskinderklinik Tübingen, Germany
Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark
Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark
Neuroscience Department, Children's Hospital A. Meyer, University of Florence, Italy
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA
Departments of Pediatrics and Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia
Department of Neurology, Royal Children's Hospital Melbourne, Melbourne, Australia
Department of Paediatrics, University of Melbourne, Melbourne, Australia
Australia Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia
Servizio di Neuropsichiatria Infantile, Policlinico G.B. Rossi, Universita Degli Studi di Verona, Italy
Department of Child Neurology, Ospedale Pediatrico G. Salesi-Ospedali Riuniti, Ancona, Italy
Division of Clinical Neurophysiology, Children's Research Center, University Children's Hospital Zurich, Switzerland
Brain and Behaviour Department, University of Pavia, Pavia, Italy
Department of Pediatric Neuroradiology, IRCCS "C. Mondino" National Neurological Institute, Pavia, Italy
Department of Epilepsy Genetics, Danish Epilepsy Centre Dianalund, Dianalund, Denmark
Department of Child Neurology, Danish Epilepsy Centre, Dianalund, Denmark
Cytogenetic and Molecular Genetic Laboratory, Istituto Auxologico Italiano, IRCCS, Milano, Italy
Department of Adult Neurology, Danish Epilepsy Centre, Dianalund, Denmark
University of Copenhagen, Denmark
Struttura Complessa di Neurologia Pediatrica Ospedale Vittore Buzzi, Milano, Italy
Dipartimento di Scienze Biomediche e Cliniche L. Sacco, Università di Milano, Italy
Århus University, Denmark
Department of Child Neurology, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Department of Child Neurology, The Royal Children's Hospital, Melbourne, Australia
Issue Date: 31-Aug-2018
Date: 2018-08-31
Publication information: Neurology 2018; 91(12): e1112-e1124
Abstract: To 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.
DOI: 10.1212/WNL.0000000000006199
ORCID: 0000-0002-2311-2174
Journal: Neurology
PubMed URL: 30171078
Type: Journal Article
Appears in Collections:Journal articles

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