PubMed for id: 1052351

Year	Number of Results
1988	1
1999	2
2000	1
2004	1
2005	1
2006	1
2007	2
2014	1
2015	2
2016	1
2017	1
2018	3
2019	2
2020	4
2021	1
2022	1
2023	3
2024	0

1

Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.

Yang GM, Tian FY, Shen YW, Yang CY, Yuan H, Li P, Gao ZB. Yang GM, et al. Acta Pharmacol Sin. 2023 Aug;44(8):1589-1599. doi: 10.1038/s41401-023-01073-y. Epub 2023 Mar 17. Acta Pharmacol Sin. 2023. PMID: 36932231 Free PMC article.

2

Anesthetic management of a pediatric patient with Dravet syndrome: A case report.

Hase Y, Takuma S, Hojo T, Nitta Y, Kamekura N. Hase Y, et al. Medicine (Baltimore). 2023 Jan 27;102(4):e32709. doi: 10.1097/MD.0000000000032709. Medicine (Baltimore). 2023. PMID: 36705365 Free PMC article.

3

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.

Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N. Dai W, et al. Eur J Hum Genet. 2023 Jan;31(1):112-121. doi: 10.1038/s41431-022-01217-4. Epub 2022 Nov 14. Eur J Hum Genet. 2023. PMID: 36376392 Free PMC article.

4

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G. Hofmeister B, et al. Neuropediatrics. 2021 Apr;52(2):109-122. doi: 10.1055/s-0041-1722878. Epub 2021 Feb 12. Neuropediatrics. 2021. PMID: 33578439 Review.

5

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA. Lewis H, et al. Pediatr Neurol. 2020 Nov;112:94-100. doi: 10.1016/j.pediatrneurol.2020.04.006. Epub 2020 Apr 13. Pediatr Neurol. 2020. PMID: 32446642

6

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J. Kolc KL, et al. Transl Psychiatry. 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. Transl Psychiatry. 2020. PMID: 32366910 Free PMC article.

7

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Van Bergen NJ, et al. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.

8

Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.

Cucchiara F, Frumento P, Banfi T, Sesso G, Di Galante M, D'Ascanio P, Valvo G, Sicca F, Faraguna U. Cucchiara F, et al. Sleep. 2020 Apr 15;43(4):zsz255. doi: 10.1093/sleep/zsz255. Sleep. 2020. PMID: 31722434 Free PMC article.

9

A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype.

Nolan DA, Chen B, Michon AM, Salatka E, Arndt D. Nolan DA, et al. Epileptic Disord. 2019 Feb 1;21(1):112-116. doi: 10.1684/epd.2019.1036. Epileptic Disord. 2019. PMID: 30767894

10

Notch signaling in human iPS-derived neuronal progenitor lines from Focal Cortical Dysplasia patients.

Majolo F, Marinowic DR, Machado DC, Da Costa JC. Majolo F, et al. Int J Dev Neurosci. 2018 Oct;69:112-118. doi: 10.1016/j.ijdevneu.2018.07.006. Epub 2018 Jul 23. Int J Dev Neurosci. 2018. PMID: 30048676

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