Gorman KM - Search Results

1

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.

Hedrich UBS, Lauxmann S, Wolff M, Synofzik M, Bast T, Binelli A, Serratosa JM, Martínez-Ulloa P, Allen NM, King MD, Gorman KM, Zeev BB, Tzadok M, Wong-Kisiel L, Marjanovic D, Rubboli G, Sisodiya SM, Lutz F, Ashraf HP, Torge K, Yan P, Bosselmann C, Schwarz N, Fudali M, Lerche H. Hedrich UBS, et al. Among authors: gorman km. Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1. Sci Transl Med. 2021. PMID: 34516822

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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