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4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich UBS, Lauxmann S, Wolff M, Synofzik M, Bast T, Binelli A, Serratosa JM, Martínez-Ulloa P, Allen NM, King MD, Gorman KM, Zeev BB, Tzadok M, Wong-Kisiel L, Marjanovic D, Rubboli G, Sisodiya SM, Lutz F, Ashraf HP, Torge K, Yan P, Bosselmann C, Schwarz N, Fudali M, Lerche H. Hedrich UBS, et al. Among authors: zeev bb. Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1. Sci Transl Med. 2021. PMID: 34516822
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB. Heimer G, et al. Among authors: zeev bb. J Child Neurol. 2015 Nov;30(13):1749-56. doi: 10.1177/0883073815579708. Epub 2015 Apr 20. J Child Neurol. 2015. PMID: 25895915
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
Petel-Galil Y, Benteer B, Galil YP, Zeev BB, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E. Petel-Galil Y, et al. Among authors: zeev bb. J Med Genet. 2006 Dec;43(12):e56. doi: 10.1136/jmg.2006.041285. J Med Genet. 2006. PMID: 17142618 Free PMC article.
The phenotype associated with a large deletion on MECP2.
Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, Leonard H. Bebbington A, et al. Among authors: zeev bb. Eur J Hum Genet. 2012 Sep;20(9):921-7. doi: 10.1038/ejhg.2012.34. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473088 Free PMC article.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: zeev bb. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Adults with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations.
Mitchell JW, Sossi F, Miller I, Jaber PB, Das-Gupta Z, Fialho LS, Amos A, Austin JK, Badzik S, Baker G, Zeev BB, Bolton J, Chaplin JE, Cross JH, Chan D, Gericke CA, Husain AM, Lally L, Mbugua S, Megan C, Mesa T, Nuñez L, von Oertzen TJ, Perucca E, Pullen A, Ronen GM, Sajatovic M, Singh MB, Wilmshurst JM, Wollscheid L, Berg AT. Mitchell JW, et al. Among authors: zeev bb. Epilepsia. 2024 May 13. doi: 10.1111/epi.17971. Online ahead of print. Epilepsia. 2024. PMID: 38738754
PRDM16 co-operates with LHX2 to shape the human brain.
Suresh V, Bhattacharya B, Tshuva RY, Danan Gotthold M, Olender T, Bose M, Pradhan SJ, Zeev BB, Smith RS, Tole S, Galande S, Harwell CC, Baizabal JM, Reiner O. Suresh V, et al. Among authors: zeev bb. Oxf Open Neurosci. 2024 Jan 24;3:kvae001. doi: 10.1093/oons/kvae001. eCollection 2024. Oxf Open Neurosci. 2024. PMID: 38595939 Free PMC article.
15 results