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Page 1
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar 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. Balestrini S, et al. Among authors: ajeawung nf. Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281533 Free PMC article.
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. Mucha BE, et al. Among authors: ajeawung nf. Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245510 Free article.
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Among authors: ajeawung nf. Genet Med. 2021 Jan;23(1):149-154. doi: 10.1038/s41436-020-00950-9. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873933 Free article.
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. Mucha BE, et al. Among authors: ajeawung nf. Genet Med. 2019 Sep;21(9):2159-2160. doi: 10.1038/s41436-018-0413-x. Genet Med. 2019. PMID: 30643220 Free article.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Among authors: ajeawung nf. Genet Med. 2021 Jan;23(1):237. doi: 10.1038/s41436-020-00969-y. Genet Med. 2021. PMID: 32934366 Free article. No abstract available.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W; DDD Study; CAUSES Study; Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Yan K, et al. Among authors: ajeawung nf. Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939640 Free PMC article.
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