| 1 | DOORS, PIGB, PIGBD, TBC1D24
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| Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
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| Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM.
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| Am J Hum Genet 105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27.
2019
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| 2 | IMEI, TBC1D24
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| Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
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| Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, de Bellescize J, Ville D, Lesca G, Korff CM.
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| Neuropediatrics 50(5):308-312. doi: 10.1055/s-0039-1688410. Epub 2019 Jun 21.
2019
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| 3 | IMEI, TBC1D24
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| Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
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| Zhang J, Chen J, Zeng Q, Zhang L, Tian X, Yang X, Yang Z, Wu Y, Wu X, Zhang Y.
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| Seizure 69:228-234. doi: 10.1016/j.seizure.2019.05.010. Epub 2019 May 13.
2019
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| 4 | TBC1D24
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| TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
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| 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.
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| Cell Death Differ ell Death Differ. 2019 Mar 11. doi: 10.1038/s41418-019-0313-x. [Epub ahead of print]
2019
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| 5 | TBC1D24
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| The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
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| 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.
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| Hum Mol Genet 28(4):584-597. doi: 10.1093/hmg/ddy370.
2019
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| 6 | EFNB2, TBC1D24
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| TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration.
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| Yoon J, Hwang YS, Lee M, Sun J, Cho HJ, Knapik L, Daar IO.
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| Nat Commun 9(1):3491. doi: 10.1038/s41467-018-05924-9.
2018
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| 7 | DOORS, TBC1D24
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| Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.
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| Atli E, Gurkan H, Ulusal S, Karal Y, Atli EI, Tozkir H.
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| Clin Dysmorphol 27(1):1-3. doi: 10.1097/MCD.0000000000000204. No abstract available.
2018
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| 8 | EIEE16, TBC1D24
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| Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
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| Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A.
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| Am J Med Genet A 170(12):3207-3214. doi: 10.1002/ajmg.a.37933. Epub 2016 Aug 19.
2016
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| 9 | TBC1D24
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| TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
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| Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Straiar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.
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| Neurology 87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.
2016
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| 10 | DFNB86, TBC1D24
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| Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
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| Bakhchane A, Charif M, Salime S, Boulouiz R, Nahili H, Roky R, Lenaers G, Barakat A.
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| PLoS One 10(9):e0138072. doi: 10.1371/journal.pone.0138072. eCollection 2015.
2015
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| 11 | EIEE16, TBC1D24
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| Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
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| Straiar BG, Neubauer D, Paro Panjan D, Writzl K.
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| Eur J Paediatr Neurol 19(2):251-6. doi: 10.1016/j.ejpn.2014.12.011. Epub 2014 Dec 20.
2015
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| 12 | DFNB86, TBC1D24
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| Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86.
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| Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB.
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| Am J Hum Genet 94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004.
2014
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| 13 | DOORS, TBC1D24
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| The genetic basis of DOORS syndrome: an exome-sequencing study.
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| Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM.
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| Lancet Neurol 13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.
2014
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| 14 | DFNA65, TBC1D24
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| TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
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| Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ.
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| Hum Mutat 35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6.
2014
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| 15 | DFNA65, TBC1D24
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| A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
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| Zhang L, Hu L, Chai Y, Pang X, Yang T, Wu H.
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| Hum Mutat 35(7):814-8. doi: 10.1002/humu.22558. Epub 2014 May 6.
2014
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| 16 | EIEE16, TBC1D24
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| TBC1D24 truncating mutation resulting in severe neurodegeneration.
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| Guven A, Tolun A.
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| J Med Genet 50(3):199-202. doi: 10.1136/jmedgenet-2012-101313. Epub 2013 Jan 23.
2013
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| 17 | EIEE16, TBC1D24
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| TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
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| Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD.
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| Epilepsy Res 105(1-2):240-4. doi: 10.1016/j.eplepsyres.2013.02.005. Epub 2013 Mar 19.
2013
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| 18 | IMEI, TBC1D24
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| TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
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| Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F.
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| Am J Hum Genet 87(3):365-70. Epub 2010 Aug 19.PMID: 20727515 2010
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| 19 | EIEE16, IMEI, TBC1D24
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| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
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| Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J.
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| Am J Hum Genet 87(3):371-5.PMID: 20797691 2010
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| 20 | DOORS, TBC1D24
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| DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.
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| Surendran S, Michals-Matalon K, Krywawych S, Qazi QH, Tuchman R, Rady PL, Tyring SK, Matalon R.
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| Am J Med Genet 113(4):371-4.
2002
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| 21 | AARS2, ADAMTSL3, AHRR, AMIGO1, ANKFY1, ARHGAP31, ARID1A, ARID1B, ASAP1, ASB1, BACE1, BIRC6, BRPF3, C14orf118, CASKIN2, CCPG1, CD2BP2, CNOT6, COG6, CPAMD8, DCDC2, DLG3, ERBIN, ERGIC1, FAM190B, FAM63B, FBXO40, FILIP1, FSTL5, FZR1, GALNTL1, GATAD2B, GDA, GMEB2, GNPTAB, GRID1, GRIPAP1, HECTD1, HEG1, HHATL, INTU, IPO9, ISY1, KCNH3, KIAA1143, KIAA1191, KIAA1217, KIAA1274, LCHN, LMBR1L, LRFN2, LRRC47, MACF1, MAP7D1, MIER2, MTA3, MYO5B, MYOF, MYORG, NDFIP2, NDRG2, NELFB, NLGN4X, NLN, OGDHL, PAIP2B, PAK7, PECR, PLEKHG1, PLEKHH1, PNKD, PNMAL2, PPP1R9A, PRDM10, REXO1, RIMKLB, RNF150, SGPL1, SHROOM4, SLC39A10, SLC45A4, SRGAP2, STK36, SULF2, TBC1D24, TLE4, TMCC3, TPCN1, TRMT6, TTC7A, TTC7B, USP31, ZBTB21, ZBTB47, ZC4H2, ZNF490, ZNF644, ZNF777
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| Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
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| Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O.
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| DNA Res 6(5):329-36. 1999
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