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Paper Details

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.
Mol Genet Genomic Med
2
2023
G, SYNJ1, SYNJ1 pathogenic variant, SYNJ1 variants, Synaptojanin-1, c.242-2A?, developmental and epileptic encephalopathy, developmental delay, epileptic encephalopathy, generalized dystonia, parkinsonism, poly-phosphoinositide, poly-phosphoinositide phosphatase
Author NameAffiliation
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia
Dong LiUniversity of Pennsylvania Perelman School of Medicine
Dong LiThe Children's Hospital of Philadelphia
Hakon HakonarsonMichigan State University
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonUniversity of Pennsylvania Perelman School of Medicine
Hakon HakonarsonMichigan State University
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonUniversity of Pennsylvania Perelman School of Medicine
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