ALG11-CDG: Three novel mutations and further characterization of the phenotype

ALG11-CDG: Three novel mutations and further characterization of the phenotype

We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethal...

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Bibliographic Details
Main Authors: L. Regal, P.M. van Hasselt, F. Foulquier, I. Cuppen, HCMT Prinsen, K. Jansen, L. Keldermans, L. De Meirleir, G. Matthijs, J. Jaeken
Format: Article
Language:English
Published: Elsevier 2015-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
ALG11-CDG
Burst suppression EEG
Neuronal heterotopia
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000767

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http://www.sciencedirect.com/science/article/pii/S2214426914000767

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