Connection

JAMES LUPSKI to Epilepsy, Generalized

This is a "connection" page, showing publications JAMES LUPSKI has written about Epilepsy, Generalized.
Connection Strength

1.724
  1. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924.
    View in: PubMed
    Score: 0.774
  2. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
    View in: PubMed
    Score: 0.718
  3. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 12 01; 146(12):5031-5043.
    View in: PubMed
    Score: 0.216
  4. Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006 Feb; 21(2):93-8.
    View in: PubMed
    Score: 0.016
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.