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See also: TBC1D24 TBC1 domain family member 24 in the Gene database

tbc1d24 in Homo sapiensMus musculusRattus norvegicusAll 291 Gene records

Search results

Items: 1 to 20 of 66

1.

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R.

Brain. 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175.

PMID:
31257402
2.

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, de Bellescize J, Ville D, Lesca G, Korff CM.

Neuropediatrics. 2019 Oct;50(5):308-312. doi: 10.1055/s-0039-1688410. Epub 2019 Jun 21.

PMID:
31226716
3.

[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy].

Zhang J, Zhang YH, Chen JY, Ji TY, Yang ZX, Yang XL, Sun W, Zhang LP, Wu XR.

Zhonghua Er Ke Za Zhi. 2019 Jun 2;57(6):458-464. doi: 10.3760/cma.j.issn.0578-1310.2019.06.011. Chinese.

PMID:
31216804
4.

Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.

Zhang J, Chen J, Zeng Q, Zhang L, Tian X, Yang X, Yang Z, Wu Y, Wu X, Zhang Y.

Seizure. 2019 Jul;69:228-234. doi: 10.1016/j.seizure.2019.05.010. Epub 2019 May 13.

5.

TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.

Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A.

Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11.

PMID:
30858606
6.

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Nakashima M, Negishi Y, Hori I, Hattori A, Saitoh S, Saitsu H.

Am J Med Genet A. 2019 Apr;179(4):645-649. doi: 10.1002/ajmg.a.61056. Epub 2019 Jan 24.

PMID:
30680869
7.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2019 Sep;21(9):2159-2160. doi: 10.1038/s41436-018-0413-x.

PMID:
30643220
8.

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB.

Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445.

PMID:
30602030
9.

DOOR syndrome: A case report and its embryological basis.

Santos M, Reis-Rego Â, Coutinho M, Almeida E Sousa C.

Int J Pediatr Otorhinolaryngol. 2019 Feb;117:57-60. doi: 10.1016/j.ijporl.2018.11.015. Epub 2018 Nov 14.

PMID:
30579089
10.

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.

Finelli MJ, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, Degiacomi MT, Grasegger J, Lupien-Meilleur A, Bassett A, Rossignol E, Campeau PM, Bowl MR, Benfenati F, Fassio A, Oliver PL.

Hum Mol Genet. 2019 Feb 15;28(4):584-597. doi: 10.1093/hmg/ddy370.

11.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Erratum in: Genet Med. 2019 Jan 14;:.

PMID:
30245510
12.

[Clinical phenotypes of TBC1D24 gene related epilepsy].

Zhang J, Zhang YH, Chen JY, Zhang LP, Zeng Q, Tian XJ, Yang ZX, Wu Y, Yang XL, Wu XR.

Zhonghua Er Ke Za Zhi. 2018 Sep 2;56(9):667-673. doi: 10.3760/cma.j.issn.0578-1310.2018.09.007. Chinese.

PMID:
30180405
13.

TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration.

Yoon J, Hwang YS, Lee M, Sun J, Cho HJ, Knapik L, Daar IO.

Nat Commun. 2018 Aug 28;9(1):3491. doi: 10.1038/s41467-018-05924-9.

14.

Genetics of hearing loss in the Arab population of Northern Israel.

Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, Chervinsky E, Zoubi OA, Walsh T, Ast G, King MC, Avraham KB, Shalev SA.

Eur J Hum Genet. 2018 Dec;26(12):1840-1847. doi: 10.1038/s41431-018-0218-z. Epub 2018 Aug 23.

15.

Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.

Li J, Liu R, Feng H, Zhang J, Wang D, Wang Y, Zeng J, Fan Y.

Front Neurol. 2018 Jul 31;9:623. doi: 10.3389/fneur.2018.00623. eCollection 2018.

16.

Downregulation of TBC1 Domain Family Member 24 (BC1D24) Inhibits Breast Carcinoma Growth via IGF1R/PI3K/AKT Pathway.

Qu X, Zhao B, Hu M, Ji Z, Xu J, Xia W, Qu Y.

Med Sci Monit. 2018 Jun 12;24:3987-3996. doi: 10.12659/MSM.906736.

17.

Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.

Mohandas N, Bass-Stringer S, Maksimovic J, Crompton K, Loke YJ, Walstab J, Reid SM, Amor DJ, Reddihough D, Craig JM.

Clin Epigenetics. 2018 Feb 23;10:25. doi: 10.1186/s13148-018-0457-4. eCollection 2018.

18.

[Clinical features and gene analysis of TBC1D24 gene mutation related early-onset focal myoclonic epilepsy].

Leng XR, Ye J, Zhou QL, Qi XH, Dong YH, Zhang LP, Zhang YF, Wang YP, Li LP, Lin YC.

Zhonghua Yi Xue Za Zhi. 2018 Feb 6;98(6):445-449. doi: 10.3760/cma.j.issn.0376-2491.2018.06.010. Chinese.

PMID:
29429257
19.

Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua.

Zhou Q, Lin Y, Ye J, Li L, Hu N, Wang D, Wang Y.

Front Neurol. 2018 Jan 24;8:750. doi: 10.3389/fneur.2017.00750. eCollection 2017.

20.

TBC1D24-Related Disorders.

Mucha BE, Hennekam RCM, Sisodiya S, Campeau PM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Feb 26 [updated 2017 Dec 7].

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