Clinical Genetics · 1997 · 24 citations · 9 references
MedicineNeurologyNeuroscienceEpilepsyNeurogeneticsPediatric NeurologyDevelopmental EncephalopathiesEpilepsy SyndromesGenetic EpilepsiesMendelian Neurological DisordersNeurodevelopmental DisordersNeurogenetic DisordersCerebellar MalformationsEpileptic SyndromesInherited Epilepsy SyndromesMyoclonic SeizuresSyndromic Epilepsy
Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
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Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
Orly Reiner, Romeo Carrozzo, Ying H. Shen et al. · Nature · 1993 · 1.1K citations
Clinical and molecular diagnosis of Miller-Dieker syndrome.
William B. Dobyns, Cynthia J. Curry, H. Eugene Hoyme et al. · PubMed · 1991 · 241 citations