Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2018 Jan-Feb;18(1):24-26.
doi: 10.5698/1535-7597.18.1.24.

Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies

Comment

Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies

M Scott Perry et al. Epilepsy Curr. 2018 Jan-Feb.
No abstract available

PubMed Disclaimer

Comment on

  • Profile of neonatal epilepsies: Characteristics of a prospective US cohort.
    Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, Soul JS, Wiwattanadittakun N, Abend NS, Cilio MR; Neonatal Seizure Registry. Shellhaas RA, et al. Neurology. 2017 Aug 29;89(9):893-899. doi: 10.1212/WNL.0000000000004284. Epub 2017 Jul 21. Neurology. 2017. PMID: 28733343 Free PMC article.
  • Early-Life Epilepsies and the Emerging Role of Genetic Testing.
    Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Koh S. Berg AT, et al. JAMA Pediatr. 2017 Sep 1;171(9):863-871. doi: 10.1001/jamapediatrics.2017.1743. JAMA Pediatr. 2017. PMID: 28759667 Free PMC article.

References

    1. Shinnar S, O'Dell C, Mitnick R, Berg AT, Moshe SL.. Neuroimaging abnormalities in children with an apparent first unprovoked seizure. 2001; 43: 261– 269. - PubMed
    1. Hsieh DT, Chang T, Tsuchida TN, Vezina LG, Vanderver A, Siedel J, Brown K, Berl MM, Stephens S, Zeitchick A, Gaillard WD.. New-onset afebrile seizures in infants: Role of neuroimaging. 2010; 74: 150– 156. - PMC - PubMed
    1. Euro E-RESC; Epilepsy Phenome/Genome P; Epi KC. . De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 2014; 95: 360– 370. - PMC - PubMed
    1. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A.. Copy number variation plays an important role in clinical epilepsy. 2014; 75: 943– 958. - PMC - PubMed
    1. Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, Palmer R, Morrogh D, Boustred C, Hurst JA, Jenkins L, Kurian MA, Scott RH.. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 2016; 53: 310– 317. - PMC - PubMed

LinkOut - more resources