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Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.

Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Jen JC, et al. Among authors: wan j. Neurology. 2005 Aug 23;65(4):529-34. doi: 10.1212/01.wnl.0000172638.58172.5a. Neurology. 2005. PMID: 16116111

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Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

Jen J, Wan J, Graves M, Yu H, Mock AF, Coulin CJ, Kim G, Yue Q, Papazian DM, Baloh RW. Jen J, et al. Among authors: wan j. Neurology. 2001 Nov 27;57(10):1843-8. doi: 10.1212/wnl.57.10.1843. Neurology. 2001. PMID: 11723274

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Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.

Maselli RA, Wan J, Dunne V, Graves M, Baloh RW, Wollmann RL, Jen J. Maselli RA, et al. Among authors: wan j. Neurology. 2003 Dec 23;61(12):1743-8. doi: 10.1212/01.wnl.0000099748.41130.9a. Neurology. 2003. PMID: 14694040

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Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Jen JC, et al. Among authors: wan j. Science. 2004 Jun 4;304(5676):1509-13. doi: 10.1126/science.1096437. Epub 2004 Apr 22. Science. 2004. PMID: 15105459 Free PMC article.

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Nonconsensus intronic mutations cause episodic ataxia.

Wan J, Carr JR, Baloh RW, Jen JC. Wan J, et al. Ann Neurol. 2005 Jan;57(1):131-5. doi: 10.1002/ana.20343. Ann Neurol. 2005. PMID: 15622542

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CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.

Wan J, Khanna R, Sandusky M, Papazian DM, Jen JC, Baloh RW. Wan J, et al. Neurology. 2005 Jun 28;64(12):2090-7. doi: 10.1212/01.WNL.0000167409.59089.C0. Neurology. 2005. PMID: 15985579

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Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.

de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. de Vries B, et al. Among authors: wan j. Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535. Arch Neurol. 2009. PMID: 19139306

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Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.

Wan J, Mamsa H, Johnston JL, Spriggs EL, Singer HS, Zee DS, Al-Bayati AR, Baloh RW, Jen JC; CINCH Investigators. Wan J, et al. Front Neurol. 2011 Sep 9;2:51. doi: 10.3389/fneur.2011.00051. eCollection 2011. Front Neurol. 2011. PMID: 21927611 Free PMC article.

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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.

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Episodic ataxias.

Jen JC, Wan J. Jen JC, et al. Among authors: wan j. Handb Clin Neurol. 2018;148:521-529. doi: 10.1016/B978-0-444-64076-5.00033-8. Handb Clin Neurol. 2018. PMID: 29478597 Review.

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