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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Analysis of shared heritability in common disorders of the brain
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance
Structural genomic variation in childhood epilepsies with complex phenotypes
RARE STRUCTURAL GENOMIC VARIANTS IN NONSYNDROMIC EPILEPTIC ENCEPHALOPATHIES WITH AND WITHOUT MRI- DETECTABLE STRUCTURAL BRAIN ABNORMALITIES