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L-2-Hydroxyglutaric Aciduria: Identification of a Mutant Gene C14Orf160, Localized on Chromosome 14Q22.1
(Oxford Univ Press, 2004)
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid ...
Mutations In Arfgef2 Implicate Vesicle Trafficking In Neural Progenitor Proliferation And Migration In The Human Cerebral Cortex
(Nature Publishing Group, 2004)
Disruption of human neural precursor proliferation can give rise to a small brain ( microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative ...