Disease: Pachygyria with mental retardation and seizures
- <em>PAFAH1B1</em>-Related Lissencephaly / Subcortical Band Heterotopia
- A novel ARX loss of function variant in female monozygotic twins is associated with chorea
- Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery
- Anesthetic Management and Bispectral Index in a Child with Miller-Dieker Syndrome: A Case Report
- Baraitser-Winter Cerebrofrontofacial Syndrome
- Case report: Genotype and phenotype of <em>DYNC1H1</em>-related malformations of cortical development: a case report and literature review
- CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies
- Excitatory/Inhibitory Synaptic Ratios in Polymicrogyria and Down Syndrome Help Explain Epileptogenesis in Malformations
- Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature
- Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons
- Long-term Outcome of Epilepsy and Cortical Malformations Due to Abnormal Migration and Postmigrational Development: A Cohort Study
- Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients
- Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
- The role of thickness inhomogeneities in hierarchical cortical folding
- Two cases of DYNC1H1 mutations with intractable epilepsy
- Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders
- X-linked neuronal migration disorders: Gender differences and insights for genetic screening
- YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse