title: SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment.
abstract: SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). There are currently no clear genotype-phenotype correlations to help guide patient counseling and management.
  
  
  
  We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were concerning for fetal seizures. Ultrasound also revealed abnormal developmental states. With maternal administration of levetiracetam, the rhythmic fetal movements stopped. After birth, the patient developed treatment-refractory multi-focal epilepsy confirmed by electroencephalogram. Neuroimaging revealed restricted diffusion in the superior cerebellar peduncles, a finding not reported previously in EIEE13.
  
  
  
  This is the first report of EIEE13 associated with clinical prenatal-onset seizures. Ultrasonography can be useful for identifying fetal seizures, which may be treatable in utero. Ideally, the clinical approach to fetal seizures should involve a multidisciplinary team spanning the pre- and postnatal course to expedite early diagnosis and optimize management, as illustrated by this patient.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Melanie A
authors.initials: MA
authors.lastname: McNally
authors.affiliation: Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Julia
authors.initials: J
authors.lastname: Johnson
authors.affiliation: Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Thierry A
authors.initials: TA
authors.lastname: Huisman
authors.affiliation: Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Andrea
authors.initials: A
authors.lastname: Poretti
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Kristin W
authors.initials: KW
authors.lastname: Baranano
authors.affiliation: Center for Fetal Therapy, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Ahmet A
authors.initials: AA
authors.lastname: Baschat
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: cstafst1@jhmi.edu.
authors.forename: Carl E
authors.initials: CE
authors.lastname: Stafstrom
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000187:drug effects / Q000196:embryology / Q000503:physiopathology; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D007231:Infant, Newborn; D062557:NAV1.6 Voltage-Gated Sodium Channel / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D016216:Ultrasonography, Prenatal
chemical_list: D062557:NAV1.6 Voltage-Gated Sodium Channel; C100681:SCN8A protein, human
keywords: SCN8A; arthrogryposis; early infantile epileptic encephalopathy; fetal seizures; sodium channels; ultrasonography