145 related articles for article (PubMed ID: 38495955)
1. Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Simonelli V; Ferrari AR; Battini R; Brovedani P; Bartolini E
Clin Neurophysiol Pract; 2024; 9():102-105. PubMed ID: 38495955
[TBL] [Abstract][Full Text] [Related]
2. Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Moosa S; Böhrer-Rabel H; Altmüller J; Beleggia F; Nürnberg P; Li Y; Yigit G; Wollnik B
Am J Med Genet A; 2017 Jan; 173(1):264-267. PubMed ID: 27753196
[TBL] [Abstract][Full Text] [Related]
3. [Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review].
Lei HH; Liu LL; Wang XL; Tie XC; Tian N; Ji Y; Yang Y
Zhonghua Er Ke Za Zhi; 2022 Sep; 60(9):935-939. PubMed ID: 36038305
[No Abstract] [Full Text] [Related]
4. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL; Curry PDK; Marcinkute R; Brewer C; Coman D; Hobson E; Johnson D; Lynch SA; Saggar A; Searle C; Scurr I; Turnpenny PD; Vasudevan P; Tatton-Brown K
Am J Med Genet A; 2021 Aug; 185(8):2445-2454. PubMed ID: 34032352
[TBL] [Abstract][Full Text] [Related]
5. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G; Tenorio J; Arias P; Santos-Simarro F; García-Miñaur S; Moreno JC; Nevado J; Vallespin E; Rodriguez-Laguna L; de Mena R; Dapia I; Palomares-Bralo M; Del Pozo Á; Ibañez K; Silla JC; Barroso E; Ruiz-Pérez VL; Martinez-Glez V; Lapunzina P
Clin Genet; 2018 Apr; 93(4):762-775. PubMed ID: 28892148
[TBL] [Abstract][Full Text] [Related]
6. A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
Carli D; Ferrero GB; Fusillo A; Coppo P; La Selva R; Zinali F; Cardaropoli S; Ranieri C; Iacoviello M; Resta N; Mussa A
Clin Genet; 2021 May; 99(5):719-723. PubMed ID: 33506498
[TBL] [Abstract][Full Text] [Related]
7. Brain Tissue Low-Level Mosaicism for
Szczałuba K; Rydzanicz M; Walczak A; Kosińska J; Koppolu A; Biernacka A; Iwanicka-Pronicka K; Grajkowska W; Jurkiewicz E; Kowalczyk P; Płoski R
Diagnostics (Basel); 2021 Jul; 11(7):. PubMed ID: 34359351
[TBL] [Abstract][Full Text] [Related]
8. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Rodríguez-García ME; Cotrina-Vinagre FJ; Bellusci M; Martínez de Aragón A; Hernández-Sánchez L; Carnicero-Rodríguez P; Martín-Hernández E; Martínez-Azorín F
Eur J Hum Genet; 2019 Sep; 27(9):1369-1378. PubMed ID: 31053780
[TBL] [Abstract][Full Text] [Related]
9. Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD; Althoff T; Elfferich P; Gutierrez-Mejia I; Sadik J; Bernstein JA; van Ierland Y; Kattentidt-Mouravieva AA; Nellist M; Abramson J; Martinez-Agosto JA
PLoS Genet; 2021 Jul; 17(7):e1009651. PubMed ID: 34197453
[TBL] [Abstract][Full Text] [Related]
10. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
Mroske C; Rasmussen K; Shinde DN; Huether R; Powis Z; Lu HM; Baxter RM; McPherson E; Tang S
BMC Med Genet; 2015 Nov; 16():102. PubMed ID: 26542245
[TBL] [Abstract][Full Text] [Related]
11. Ictal midline epileptiform discharges.
Amit R; Crumrine PK
Clin Electroencephalogr; 1993 Apr; 24(2):67-9. PubMed ID: 8500250
[TBL] [Abstract][Full Text] [Related]
12. Video-electroencephalographic findings and clinical characteristics of bathing seizures in children.
Kuang X; Liao H; Fang H; Zhang X; Wang L; Yang L; Wu L
Front Neurol; 2024; 15():1366206. PubMed ID: 38440111
[TBL] [Abstract][Full Text] [Related]
13. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC; Puk O; Biskup S; Krahn A; Rauf E; Kreilkamp BAK; Paulus W; Focke NK
Am J Med Genet A; 2021 Dec; 185(12):3838-3843. PubMed ID: 34327820
[TBL] [Abstract][Full Text] [Related]
14. Understanding and Managing the Ictal-Interictal Continuum in Neurocritical Care.
Sivaraju A; Gilmore EJ
Curr Treat Options Neurol; 2016 Feb; 18(2):8. PubMed ID: 26874841
[TBL] [Abstract][Full Text] [Related]
15. Differentiation of typical absence seizures in epileptic syndromes. A video EEG study of 224 seizures in 20 patients.
Panayiotopoulos CP; Obeid T; Waheed G
Brain; 1989 Aug; 112 ( Pt 4)():1039-56. PubMed ID: 2505885
[TBL] [Abstract][Full Text] [Related]
16. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Yeung KS; Tso WWY; Ip JJK; Mak CCY; Leung GKC; Tsang MHY; Ying D; Pei SLC; Lee SL; Yang W; Chung BH
Mol Autism; 2017; 8():66. PubMed ID: 29296277
[TBL] [Abstract][Full Text] [Related]
17. Epileptiform electroencephalographic patterns.
Westmoreland BF
Mayo Clin Proc; 1996 May; 71(5):501-11. PubMed ID: 8628033
[TBL] [Abstract][Full Text] [Related]
18. Prediction of rhythmic and periodic EEG patterns and seizures on continuous EEG with early epileptiform discharges.
Koren J; Herta J; Draschtak S; Pötzl G; Pirker S; Fürbass F; Hartmann M; Kluge T; Baumgartner C
Epilepsy Behav; 2015 Aug; 49():286-9. PubMed ID: 25982266
[TBL] [Abstract][Full Text] [Related]
19. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi F; Berkseth M; Shear R; Gonzalez L; Timms AE; Sulc J; Pao E; Oyama N; Forzano F; Conti V; Guerrini R; Doherty ES; Saitta SC; Lockwood CM; Pritchard CC; Dobyns WB; Novotny E; Wright JNN; Saneto RP; Friedman S; Hauptman J; Ojemann J; Kapur RP; Mirzaa GM
Brain; 2022 Apr; 145(3):925-938. PubMed ID: 35355055
[TBL] [Abstract][Full Text] [Related]
20. Brief potentially ictal rhythmic discharges and paroxysmal fast activity as scalp electroencephalographic biomarkers of seizure activity and seizure onset zone.
Yoo JY; Jetté N; Kwon CS; Young J; Marcuse LV; Fields MC; Gaspard N; Hirsch LJ
Epilepsia; 2021 Mar; 62(3):742-751. PubMed ID: 33576500
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
