Literature DB >> 24049131

Vitamin B6-responsive epilepsy due to inherited GPI deficiency.

Ichiro Kuki1, Yukitoshi Takahashi, Shin Okazaki, Hisashi Kawawaki, Eiji Ehara, Norimitsu Inoue, Taroh Kinoshita, Yoshiko Murakami.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24049131     DOI： 10.1212/WNL.0b013e3182a8411a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  31 in total

Review 1.  Neurological aspects of human glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Annu Rev Neurosci       Date:  2015-04-02       Impact factor: 12.449

2.  Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Authors:  Thi Tuyet Mai Nguyen; Yoshiko Murakami; Kristen M Wigby; Nissan V Baratang; Justine Rousseau; Anik St-Denis; Jill A Rosenfeld; Stephanie C Laniewski; Julie Jones; Alejandro D Iglesias; Marilyn C Jones; Diane Masser-Frye; Angela E Scheuerle; Denise L Perry; Ryan J Taft; Françoise Le Deist; Miles Thompson; Taroh Kinoshita; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2018-09-27       Impact factor: 11.025

3.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Authors:  Sarah E Soden; Carol J Saunders; Laurel K Willig; Emily G Farrow; Laurie D Smith; Josh E Petrikin; Jean-Baptiste LePichon; Neil A Miller; Isabelle Thiffault; Darrell L Dinwiddie; Greyson Twist; Aaron Noll; Bryce A Heese; Lee Zellmer; Andrea M Atherton; Ahmed T Abdelmoity; Nicole Safina; Sarah S Nyp; Britton Zuccarelli; Ingrid A Larson; Ann Modrcin; Suzanne Herd; Mitchell Creed; Zhaohui Ye; Xuan Yuan; Robert A Brodsky; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2014-12-03       Impact factor: 17.956

Review 4.  Nutrition interventions in congenital disorders of glycosylation.

Authors:  Suzanne W Boyer; Christin Johnsen; Eva Morava
Journal:  Trends Mol Med       Date:  2022-05-10       Impact factor: 15.272

5.  A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.

Authors:  Yoav Zehavi; Anja von Renesse; Etty Daniel-Spiegel; Yonatan Sapir; Luci Zalman; Ilana Chervinsky; Markus Schuelke; Rachel Straussberg; Ronen Spiegel
Journal:  Metab Brain Dis       Date:  2017-09-13       Impact factor: 3.584

6.  Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Authors:  Periklis Makrythanasis; Mitsuhiro Kato; Maha S Zaki; Hirotomo Saitsu; Kazuyuki Nakamura; Federico A Santoni; Satoko Miyatake; Mitsuko Nakashima; Mahmoud Y Issa; Michel Guipponi; Audrey Letourneau; Clare V Logan; Nicola Roberts; David A Parry; Colin A Johnson; Naomichi Matsumoto; Hanan Hamamy; Eamonn Sheridan; Taroh Kinoshita; Stylianos E Antonarakis; Yoshiko Murakami
Journal:  Am J Hum Genet       Date:  2016-03-17       Impact factor: 11.025

Review 7.  Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL).

Authors:  Bobby G Ng; Hudson H Freeze
Journal:  J Inherit Metab Dis       Date:  2014-08-28       Impact factor: 4.982

8.  CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model.

Authors:  Marshall Lukacs; Lauren E Blizzard; Rolf W Stottmann
Journal:  Hum Mol Genet       Date:  2020-05-08       Impact factor: 6.150

9.  Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

Authors:  Emma S Reid; Hywel Williams; Polona Le Quesne Stabej; Chela James; Louise Ocaka; Chiara Bacchelli; Emma J Footitt; Stewart Boyd; Maureen A Cleary; Philippa B Mills; Peter T Clayton
Journal:  JIMD Rep       Date:  2015-10-08

10.  Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Authors:  Thi Tuyet Mai Nguyen; Yoshiko Murakami; Eamonn Sheridan; Sophie Ehresmann; Justine Rousseau; Anik St-Denis; Guoliang Chai; Norbert F Ajeawung; Laura Fairbrother; Tyler Reimschisel; Alexandra Bateman; Elizabeth Berry-Kravis; Fan Xia; Jessica Tardif; David A Parry; Clare V Logan; Christine Diggle; Christopher P Bennett; Louise Hattingh; Jill A Rosenfeld; Michael Scott Perry; Michael J Parker; Françoise Le Deist; Maha S Zaki; Erika Ignatius; Pirjo Isohanni; Tuula Lönnqvist; Christopher J Carroll; Colin A Johnson; Joseph G Gleeson; Taroh Kinoshita; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.