Gorman KM - Search Results

1

RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA. Zagaglia S, et al. Among authors: gorman km. Neurology. 2021 Mar 16;96(11):e1539-e1550. doi: 10.1212/WNL.0000000000011543. Epub 2021 Jan 27. Neurology. 2021. PMID: 33504645 Free PMC article.

2

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.

Conroy J, Allen NM, Gorman KM, Shahwan A, Ennis S, Lynch SA, King MD. Conroy J, et al. Among authors: gorman km. Clin Genet. 2016 Feb;89(2):E1-3. doi: 10.1111/cge.12648. Epub 2015 Aug 28. Clin Genet. 2016. PMID: 26235277

3

Rasmussen's encephalitis, should absence of seizures influence or delay treatment?

Gorman KM, Farrell M, Madigan C, King MD, Shahwan A. Gorman KM, et al. Childs Nerv Syst. 2015 Nov;31(11):2009-10. doi: 10.1007/s00381-015-2917-x. Epub 2015 Sep 26. Childs Nerv Syst. 2015. PMID: 26409880 No abstract available.

4

Footloose: Spinal Myoclonus after Myelomeningocele Repair.

Gorman KM, King MD. Gorman KM, et al. J Pediatr. 2016 Jun;173:261-261.e1. doi: 10.1016/j.jpeds.2016.02.032. Epub 2016 Mar 9. J Pediatr. 2016. PMID: 26968832 No abstract available.

5

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD. Conroy J, et al. J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193218

6

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. Gorman KM, et al. Am J Med Genet A. 2016 Nov;170(11):3048-3050. doi: 10.1002/ajmg.a.37849. Epub 2016 Jul 18. Am J Med Genet A. 2016. PMID: 27427475 Free article. No abstract available.

7

Symmetrical thalamic calcification: A trio whole exome sequencing negative series.

Gorman KM, Aird JJ, Conroy J, Devaney D, Farrell M, King MD. Gorman KM, et al. Brain Dev. 2017 May;39(5):426-430. doi: 10.1016/j.braindev.2016.12.001. Epub 2017 Jan 4. Brain Dev. 2017. PMID: 28063749

8

SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers.

Gorman KM, King MD. Gorman KM, et al. Pediatr Neurol. 2017 Feb;67:111-112. doi: 10.1016/j.pediatrneurol.2016.11.008. Epub 2016 Dec 8. Pediatr Neurol. 2017. PMID: 28065826 No abstract available.

9

Mitochondrial diagnosis revisited.

Lagan NC, Gorman KM, King MD. Lagan NC, et al. Among authors: gorman km. Eur J Paediatr Neurol. 2017 Jul;21(4):685-686. doi: 10.1016/j.ejpn.2017.03.004. Epub 2017 Mar 24. Eur J Paediatr Neurol. 2017. PMID: 28389061 No abstract available.

10

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Gorman KM, Forman E, Conroy J, Allen NM, Shahwan A, Lynch SA, Ennis S, King MD. Gorman KM, et al. Epilepsia. 2017 Jul;58(7):1301-1302. doi: 10.1111/epi.13794. Epilepsia. 2017. PMID: 28677859 No abstract available.

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