title: Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
authors.affiliation: Assistance Publ Hop Paris, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Passemard
authors.forename: A
authors.initials: A
authors.lastname: Gelot
authors.forename: A
authors.initials: A
authors.lastname: Fogli
authors.forename: S
authors.initials: S
authors.lastname: N'Guyen
authors.forename: C
authors.initials: C
authors.lastname: Barnerias
authors.forename: F
authors.initials: F
authors.lastname: Niel
authors.forename: D
authors.initials: D
authors.lastname: Doummar
authors.forename: A S
authors.initials: AS
authors.lastname: Arbues
authors.forename: C
authors.initials: C
authors.lastname: Mignot
authors.forename: T Billette
authors.initials: TB
authors.lastname: de Villemeur
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
authors.forename: O
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: D
authors.initials: D
authors.lastname: Rodriguez
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D001929:Brain Edema / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009421:Nervous System Malformations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012886:Skull / Q000002:abnormalities / Q000473:pathology
chemical_list: D020717:Eukaryotic Initiation Factor-2B