Epilepsy & Behavior · 2021 · 20 citations · 12 references
MedicineGeneticsPediatricsEpilepsyMedical GeneticsPediatric GeneticsEpilepsy In ChildhoodGenetic DisordersGenetic EpilepsiesGenetic SyndromesNeurodevelopmental DisordersNeurodevelopmental GeneticsGenetic Epilepsies In ChildrenGenetic Epilepsy SyndromesHereditary EpilepsiesInherited Epilepsy SyndromesSyndromic Epilepsy
12
Paul A. Harris, Robert Taylor, Robert J. Thielke et al. · Journal of Biomedical Informatics · 2008 · 51.7K citations · Full text
Phenotypic Spectrum of <i>COL4A1</i> Mutations: Porencephaly to Schizencephaly
Yuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato et al. · Annals of Neurology · 2012 · 173 citations
<i>COL4A1</i> mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon, Isabelle Coupry, Patrice Ménégon et al. · Annals of Neurology · 2007 · 149 citations
Medicine, Neurology, Ophthalmology +16
Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations
Sara Zagaglia, C. Selch, Jelena Radić Nišević et al. · Neurology · 2018 · 144 citations · Full text
Medicine, Neurology, Neuroscience +17