Associated Papers
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Harms FL et al.
Neurogenetics, 2023
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Afsar T et al.
Frontiers in Pediatrics, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
Fung CW et al.
Epilepsia Open, 2017
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