title: Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
abstract: Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.
authors.affiliation: Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: babkina.n@gmail.com.
authors.forename: Natalia
authors.initials: N
authors.lastname: Babkina
authors.affiliation: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
authors.forename: Joshua L
authors.initials: JL
authors.lastname: Deignan
authors.affiliation: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
authors.forename: Hane
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Vilain
authors.affiliation: Department of Neurology, Pediatrics and Children's Discovery and Innovation Institute at Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
authors.forename: Raman
authors.initials: R
authors.lastname: Sankar
authors.affiliation: Service de Biochimie Génétique, INSERM U955 Equipe 11, Hôpital Henri Mondor, 94000 Créteil, France.
authors.forename: Irina
authors.initials: I
authors.lastname: Giurgea
authors.affiliation: Department of Medical Genetics, Sydney Children's Hospital, School of Women's and Children's Health, University of New South Wales, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Mowat
authors.affiliation: Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
mesh_terms: D058540:Aicardi Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D059472:Exome; D019066:Facies; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2
keywords: Burst-suppression EEG pattern; Clinical exome sequencing; Cortical gray and white matter atrophy; Developmental delay; Infantile Epileptic Encephalopathy (EIEE); Infantile spasms; Mowat–Wilson syndrome (MWS); Seizures; ZEB2