Associated Papers
Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.
Feng WX et al.
Seizure, 2024
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Simoes C et al.
Bmc Pediatrics, 2022
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33911214 (PubMed )
Supplement: 41436_2021_1153_MOESM2_ESM.xlsx › Gen_DG
Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation.
Gilliam FG et al.
Frontiers in Neurology, 2021
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Cardoso C et al.
Human Mutation, 2002
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Cardoso C et al.
Human Molecular Genetics, 2000
Analysis of lissencephaly-causing LIS1 mutations.
Sapir T et al.
European Journal of Biochemistry, 1999
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
Fogli A et al.
Annals of Neurology, 1999
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Pilz DT et al.
Human Molecular Genetics, 1998
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