Literature DB >> 33576051

Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?

Gerard T Berry1, Hudson H Freeze2, Eva Morava3.   

Abstract

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Year:  2021        PMID： 33576051      PMCID： PMC8100982          DOI： 10.1111/epi.16817

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  3 in total

Review 1.  Recognizable phenotypes in CDG.

Authors:  Carlos R Ferreira; Ruqaia Altassan; Dorinda Marques-Da-Silva; Rita Francisco; Jaak Jaeken; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2018-04-13       Impact factor: 4.982

2.  Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Authors:  Bobby G Ng; Erik A Eklund; Sergey A Shiryaev; Yin Y Dong; Mary-Alice Abbott; Carla Asteggiano; Michael J Bamshad; Eileen Barr; Jonathan A Bernstein; Shabeed Chelakkadan; John Christodoulou; Wendy K Chung; Michael A Ciliberto; Janice Cousin; Fiona Gardiner; Suman Ghosh; William D Graf; Stephanie Grunewald; Katherine Hammond; Natalie S Hauser; George E Hoganson; Kimberly M Houck; Jennefer N Kohler; Eva Morava; Austin A Larson; Pengfei Liu; Sujana Madathil; Colleen McCormack; Naomi J L Meeks; Rebecca Miller; Kristin G Monaghan; Deborah A Nickerson; Timothy Blake Palculict; Gabriela Magali Papazoglu; Beth A Pletcher; Ingrid E Scheffer; Andrea Beatriz Schenone; Rhonda E Schnur; Yue Si; Leah J Rowe; Alvaro H Serrano Russi; Rossana Sanchez Russo; Farouq Thabet; Allysa Tuite; María Mercedes Villanueva; Raymond Y Wang; Richard I Webster; Dorcas Wilson; Alice Zalan; Lynne A Wolfe; Jill A Rosenfeld; Lindsay Rhodes; Hudson H Freeze
Journal:  J Inherit Metab Dis       Date:  2020-08-05       Impact factor: 4.982

3.  The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

Authors:  Alexandre N Datta; Nadia Bahi-Buisson; Thierry Bienvenu; Sarah E Buerki; Fiona Gardiner; J Helen Cross; Bénédicte Heron; Anna Kaminska; Christian M Korff; Anne Lepine; Gaetan Lesca; Amy McTague; Heather C Mefford; Cyrill Mignot; Matthieu Milh; Amélie Piton; Ronit M Pressler; Susanne Ruf; Lynette G Sadleir; Anne de Saint Martin; Koen Van Gassen; Nienke E Verbeek; Dorothée Ville; Nathalie Villeneuve; Pia Zacher; Ingrid E Scheffer; Johannes R Lemke
Journal:  Epilepsia       Date:  2021-01-07       Impact factor: 5.864
  3 in total
  1 in total

1.  ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Authors:  Hind Alsharhan; Miao He; Andrew C Edmondson; Earnest J P Daniel; Jie Chen; Tyhiesia Donald; Somayeh Bakhtiari; David J Amor; Elizabeth A Jones; Grace Vassallo; Marie Vincent; Benjamin Cogné; Wallid Deb; Arend H Werners; Sheng C Jin; Kaya Bilguvar; John Christodoulou; Richard I Webster; Katherine R Yearwood; Bobby G Ng; Hudson H Freeze; Michael C Kruer; Dong Li; Kimiyo M Raymond; Elizabeth J Bhoj; Andrew K Sobering
Journal:  J Inherit Metab Dis       Date:  2021-03-26       Impact factor: 4.750
  1 in total

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