Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families

Neurology. 2007 Jul 24;69(4):400-2. doi: 10.1212/01.wnl.0000266388.02772.f8.

Authors

S Passemard¹, A Gelot, A Fogli, S N'Guyen, C Barnerias, F Niel, D Doummar, A S Arbues, C Mignot, T Billette de Villemeur, G Ponsot, O Boespflug-Tanguy, D Rodriguez

Affiliation

¹ Assistance Publ Hop Paris, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France.

PMID: 17646634
DOI: 10.1212/01.wnl.0000266388.02772.f8

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Brain / abnormalities*
Brain / pathology
Brain / physiopathology
Brain Edema / genetics
Brain Edema / pathology
Brain Edema / physiopathology
Child
DNA Mutational Analysis
Disease Progression
Eukaryotic Initiation Factor-2B / genetics*
Fatal Outcome
Female
Genetic Predisposition to Disease / genetics*
Hereditary Central Nervous System Demyelinating Diseases / genetics
Hereditary Central Nervous System Demyelinating Diseases / pathology
Hereditary Central Nervous System Demyelinating Diseases / physiopathology
Humans
Infant
Magnetic Resonance Imaging
Male
Mutation / genetics*
Nerve Fibers, Myelinated / pathology
Nervous System Malformations / genetics*
Nervous System Malformations / pathology
Nervous System Malformations / physiopathology
Skull / abnormalities
Skull / pathology

Substances

Eukaryotic Initiation Factor-2B