Literature DB >> 31444733

X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.

Priyanka Madaan1, Sandeep Negi1, Rajni Sharma2, Anupriya Kaur3, Jitendra Kumar Sahu4.   

Abstract

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Year:  2019        PMID： 31444733     DOI： 10.1007/s12098-019-03059-3

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

Review 1.  Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.

Authors:  Sana Hamici; Fatma Bastaki; Mohamed Khalifa
Journal:  Eur J Med Genet       Date:  2017-08-01       Impact factor: 2.708

2.  De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Authors: 
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

3.  Knowledge, Attitude and Practice (KAP) Study of Pediatricians on Infantile Spasms.

Authors:  Vamsi Krishna Vaddi; Jitendra Kumar Sahu; Sumeet R Dhawan; Renu Suthar; Naveen Sankhyan
Journal:  Indian J Pediatr       Date:  2018-02-14       Impact factor: 1.967

4.  Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.

Authors:  Bethanny Smith-Packard; Scott M Myers; Marc S Williams
Journal:  JIMD Rep       Date:  2015-03-03

5.  Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Authors:  Sharita Timal; Alexander Hoischen; Ludwig Lehle; Maciej Adamowicz; Karin Huijben; Jolanta Sykut-Cegielska; Justyna Paprocka; Ewa Jamroz; Francjan J van Spronsen; Christian Körner; Christian Gilissen; Richard J Rodenburg; Ilse Eidhof; Lambert Van den Heuvel; Christian Thiel; Ron A Wevers; Eva Morava; Joris Veltman; Dirk J Lefeber
Journal:  Hum Mol Genet       Date:  2012-04-05       Impact factor: 6.150
  5 in total
  5 in total

1.  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

2.  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

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

4.  The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.

Authors:  Justyna Paprocka; Aleksandra Jezela-Stanek; Łukasz Boguszewicz; Maria Sokół; Patryk Lipiński; Ewa Jamroz; Ewa Emich-Widera; Anna Tylki-Szymańska
Journal:  Children (Basel)       Date:  2021-03-23

5.  Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.

Authors:  Karolina Mitusińska; Artur Góra; Anna Bogdańska; Agnieszka Rożdżyńska-Świątkowska; Anna Tylki-Szymańska; Aleksandra Jezela-Stanek
Journal:  Biomolecules       Date:  2022-03-04
  5 in total

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