Associated Papers
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 2021
Twenty Years of SynGAP Research: From Synapses to Cognition.
Gamache TR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Cowley MJ et al.
Human Mutation, 2019
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
Michaelson SD et al.
Nature Neuroscience, 2018
30455457 (PubMed )
Supplement: NIHMS1508741-supplement-Sup_Table_2.xlsx › Supplemental_Table_2
Parental Mosaicism in "De Novo" Epileptic Encephalopathies.
Myers CT et al.
The New England Journal of Medicine, 2018
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