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Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
Brown NJ, Ye Z, Stutterd C, Jayasinghe SI, Schneider A, Mullen S, Mandelstam SA, Hildebrand MS. Brown NJ, et al. Among authors: hildebrand ms. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006127. doi: 10.1101/mcs.a006127. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34588213 Free PMC article.
Does variation in NIPA2 contribute to genetic generalized epilepsy?
Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Hum Genet. 2014 May;133(5):673-4. doi: 10.1007/s00439-013-1414-0. Epub 2014 Jan 10. Hum Genet. 2014. PMID: 24408008 No abstract available.
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.
Hildebrand MS, Phillips AM, Mullen SA, Adlard PA, Hardies K, Damiano JA, Wimmer V, Bellows ST, McMahon JM, Burgess R, Hendrickx R, Weckhuysen S, Suls A, De Jonghe P, Scheffer IE, Petrou S, Berkovic SF, Reid CA. Hildebrand MS, et al. Sci Rep. 2015 Dec 9;5:17816. doi: 10.1038/srep17816. Sci Rep. 2015. PMID: 26647834 Free PMC article.
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC. Hildebrand MS, et al. Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029629 Free PMC article.
Evaluation of non-coding variation in GLUT1 deficiency.
Liu YC, Lee JW, Bellows ST, Damiano JA, Mullen SA, Berkovic SF, Bahlo M, Scheffer IE, Hildebrand MS; Clinical Group. Liu YC, et al. Among authors: hildebrand ms. Dev Med Child Neurol. 2016 Dec;58(12):1295-1302. doi: 10.1111/dmcn.13163. Epub 2016 Jun 6. Dev Med Child Neurol. 2016. PMID: 27265003 Free article.
Synaptic Zn2+ and febrile seizure susceptibility.
Reid CA, Hildebrand MS, Mullen SA, Hildebrand JM, Berkovic SF, Petrou S. Reid CA, et al. Among authors: hildebrand ms, hildebrand jm. Br J Pharmacol. 2017 Jan;174(2):119-125. doi: 10.1111/bph.13658. Epub 2016 Nov 28. Br J Pharmacol. 2017. PMID: 27771943 Free PMC article. Review.
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KL, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS. Rigbye KA, et al. Among authors: hildebrand ms. Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25. Epilepsy Res. 2016. PMID: 27810516
Evaluation of GLUT1 variation in non-acquired focal epilepsy.
Peeraer A, Damiano JA, Bellows ST, Scheffer IE, Berkovic SF, Mullen SA, Hildebrand MS. Peeraer A, et al. Among authors: hildebrand ms. Epilepsy Res. 2017 Jul;133:54-57. doi: 10.1016/j.eplepsyres.2017.04.007. Epub 2017 Apr 10. Epilepsy Res. 2017. PMID: 28419980
191 results