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Items: 8

1.

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.

Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH.

Cold Spring Harb Mol Case Stud. 2019 Feb 1;5(1). pii: a003442. doi: 10.1101/mcs.a003442. Print 2019 Feb.

2.

Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.

Sánchez Fernández I, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A.

Neurology. 2019 Jan 4. pii: 10.1212/WNL.0000000000006850. doi: 10.1212/WNL.0000000000006850. [Epub ahead of print]

PMID:
30610098
3.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002. No abstract available.

4.

Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.

Yuskaitis CJ, Sheidley BR, Poduri A.

JAMA Pediatr. 2018 Aug 1;172(8):779-780. doi: 10.1001/jamapediatrics.2018.0769. No abstract available.

5.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Erratum in: Am J Hum Genet. 2018 Oct 4;103(4):631.

6.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A.

Ann Neurol. 2017 Mar;81(3):419-429. doi: 10.1002/ana.24883. Epub 2017 Feb 14.

7.

Copy number variation plays an important role in clinical epilepsy.

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.

Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13.

8.

Genetic testing in the epilepsies-developments and dilemmas.

Poduri A, Sheidley BR, Shostak S, Ottman R.

Nat Rev Neurol. 2014 May;10(5):293-9. doi: 10.1038/nrneurol.2014.60. Epub 2014 Apr 15. Review.

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