title: Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.
abstract: We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis. Postnatal MRI confirmed the prenatal findings. On day 6 the baby presented a focal status epilepticus, partially controlled by phenobarbital, phenytoin, and levetiracetam. After three weeks a moderate improvement in seizure control has been achieved with carbamazepine. Exome sequencing detected a de novo heterozygous mutation in the SCN2A gene, encoding the αII-subunit of a sodium channel. The patient findings expand the phenotype spectrum of SCN2A mutations to epileptic encephalopathies with macroscopic brain developmental features.
authors.affiliation: Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: silviabernardo@live.it.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bernardo
authors.affiliation: Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy; IRCCS Casa Sollievo della Sofferenza, Mendel-laboratory, San Giovanni Rotondo, Italy. Electronic address: enrica.marchionni@uniroma1.it.
authors.forename: Enrica
authors.initials: E
authors.lastname: Marchionni
authors.affiliation: IRCCS Casa Sollievo della Sofferenza, Mendel-laboratory, San Giovanni Rotondo, Italy. Electronic address: s.prudente@css-mendel.it.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Prudente
authors.affiliation: Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: paola.deliso@uniroma1.it.
authors.forename: Paola
authors.initials: P
authors.lastname: De Liso
authors.affiliation: Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: a.spalice@tiscali.it.
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: antonella.giancotti@uniroma1.it.
authors.forename: Antonella
authors.initials: A
authors.lastname: Giancotti
authors.affiliation: Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: lucia.manganaro@uniroma1.it.
authors.forename: Lucia
authors.initials: L
authors.lastname: Manganaro
authors.affiliation: Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy; IRCCS Casa Sollievo della Sofferenza, Mendel-laboratory, San Giovanni Rotondo, Italy. Electronic address: antonio.pizzuti@uniroma1.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*; D002220:Carbamazepine / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D009154:Mutation; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*; D059906:Neuroimaging; D010641:Phenotype; D012640:Seizures / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; D002220:Carbamazepine
keywords: Cortical dysplasia; Epileptic encephalopathy; Fetal MRI; Prenatal diagnosis; SCN2A