Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
Passemard
S
S
Assistance Publ Hop Paris, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France.
Gelot
A
A
Fogli
A
A
N'Guyen
S
S
Barnerias
C
C
Niel
F
F
Doummar
D
D
Arbues
A S
AS
Mignot
C
C
de Villemeur
T Billette
TB
Ponsot
G
G
Boespflug-Tanguy
O
O
Rodriguez
D
D
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
D020717:Eukaryotic Initiation Factor-2B