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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: millichap j. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 Free PMC article.
Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort.
Knupp KG, Leister E, Coryell J, Nickels KC, Ryan N, Juarez-Colunga E, Gaillard WD, Mytinger JR, Berg AT, Millichap J, Nordli DR Jr, Joshi S, Shellhaas RA, Loddenkemper T, Dlugos D, Wirrell E, Sullivan J, Hartman AL, Kossoff EH, Grinspan ZM, Hamikawa L; Pediatric Epilepsy Research Consortium. Knupp KG, et al. Among authors: millichap j. Epilepsia. 2016 Nov;57(11):1834-1842. doi: 10.1111/epi.13557. Epub 2016 Sep 12. Epilepsia. 2016. PMID: 27615012 Free PMC article.
Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.
Shellhaas RA, Berg AT, Grinspan ZM, Wusthoff CJ, Millichap JJ, Loddenkemper T, Coryell J, Saneto RP, Chu CJ, Joshi SM, Sullivan JE, Knupp KG, Kossoff EH, Keator C, Wirrell EC, Mytinger JR, Valencia I, Massey S, Gaillard WD. Shellhaas RA, et al. Among authors: millichap jj. Pediatr Neurol. 2017 Oct;75:73-79. doi: 10.1016/j.pediatrneurol.2017.06.011. Epub 2017 Jun 27. Pediatr Neurol. 2017. PMID: 28807611 Free PMC article.
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: millichap jj. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy.
Grinspan ZM, Shellhaas RA, Coryell J, Sullivan JE, Wirrell EC, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Millichap J, Berg AT. Grinspan ZM, et al. Among authors: millichap j. JAMA Pediatr. 2018 Apr 1;172(4):352-360. doi: 10.1001/jamapediatrics.2017.5211. JAMA Pediatr. 2018. PMID: 29435578 Free PMC article.
Immediate outcomes in early life epilepsy: A contemporary account.
Berg AT, Wusthoff C, Shellhaas RA, Loddenkemper T, Grinspan ZM, Saneto RP, Knupp KG, Patel A, Sullivan JE, Kossoff EH, Chu CJ, Massey S, Valencia I, Keator C, Wirrell EC, Coryell J, Millichap JJ, Gaillard WD. Berg AT, et al. Among authors: millichap jj. Epilepsy Behav. 2019 Aug;97:44-50. doi: 10.1016/j.yebeh.2019.05.011. Epub 2019 Jun 7. Epilepsy Behav. 2019. PMID: 31181428 Free PMC article.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN); McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Spinelli E, et al. Among authors: millichap jj. Ann Neurol. 2021 Aug;90(2):274-284. doi: 10.1002/ana.26147. Epub 2021 Jul 13. Ann Neurol. 2021. PMID: 34185323 Free PMC article.
250 results