| 1 | ALG1, ALG3, ALG6, CDG1C, CDG1D, CDG1K, CDG1U, DPM2
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| Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
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| Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.
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| JIMD Rep IMD Rep. 2015 Oct 10. [Epub ahead of print]
2015
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| 2 | ALG1, ALG3, ALG6, ALG8, ALG9, B4GALT1, CDG1C, CDG1D, CDG1H, CDG1K, CDG1L, CDG1U, CDG2E, CDG2F, CDG2G, CDG2H, CDG2I, CDG2M, COG1, COG5, COG7, COG8, DPM2, SLC35A2
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| Congenital disorders of glycosylation with emphasis on cerebellar involvement.
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| Barone R, Fiumara A, Jaeken J.
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| Semin Neurol 34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Review. 2014
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| 3 | CDG1U, DPM2
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| DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
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| Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ.
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| Ann Neurol 72(4):550-8. doi: 10.1002/ana.23632.
2012
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