Article
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
American journal of human genetics - 12 Nov 2010
Kaufmann Rami, Straussberg Rachel, Mandel Hanna, Fattal-Valevski Aviva, Ben-Zeev Bruria, Naamati Adi, Shaag Avraham, Zenvirt Shamir, Konen Osnat, Mimouni-Bloch Aviva, Dobyns William B, Edvardson Simon, Pines Ophry, Elpeleg Orly
Abstract excerpt
Primary microcephaly of postnatal onset is a feature of many neurological disorders, mostly associated with mental retardation, seizures, and spasticity, and it typically carries a grave prognosis. Five infants from four unrelated families of Caucasus Jewish origin presented soon after birth with spasticity, epilepsy, and profound psychomotor retardation. Head circumference percentiles declined, and brain MRI...
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