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Lissencephaly: Expanded imaging and clinical classification
Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrumExpand
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
PurposeTo estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.MethodsWe collected DNA from 756 children withExpand
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Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
Objective: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. Methods: Combining sex, age/fever at first seizure, family history of epilepsy,Expand
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Clinical and genetic factors predicting Dravet syndrome in infants with SCN 1 A mutations
Objective: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. Methods: Combining sex, age/fever at first seizure, family history of epilepsy,Expand
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