Literature DB >> 27126216

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

Charuta Joshi1, Diana L Kolbe2, M Adela Mansilla2, Sara Mason2, Richard J H Smith2, Colleen A Campbell2.   

Abstract

We describe the presentation and workup of two brothers with early-onset epileptic encephalopathy who became seizure-free on a ketogenic diet. Extensive testing culminated in whole exome sequencing, which led to the diagnosis of phosphatidyl inositol glycan biosynthesis class A protein (PIGA) deficiency. This familial case highlights the importance of genetic testing for early-onset epileptic encephalopathies and underscores the potential value of a ketogenic diet in the treatment of this condition.
Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Epileptic encephalopathy; Ketogenic diet; PIGA; Whole exome sequencing

Mesh：

Substances：

Year:  2016        PMID： 27126216     DOI： 10.1016/j.braindev.2016.04.004

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  16 in total

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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.  A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.

Authors:  Christiane M Neuhofer; Rudolf Funke; Bernd Wilken; Alexej Knaus; Janine Altmüller; Peter Nürnberg; Yun Li; Bernd Wollnik; Peter Burfeind; Silke Pauli
Journal:  Mol Syndromol       Date:  2020-02-05

4.  The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.

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Journal:  Mol Biol Rep       Date:  2022-09-18       Impact factor: 2.742

Review 5.  Nutrition interventions in congenital disorders of glycosylation.

Authors:  Suzanne W Boyer; Christin Johnsen; Eva Morava
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Review 6.  Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

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7.  Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

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Journal:  Genome Med       Date:  2018-01-09       Impact factor: 11.117

Review 8.  CDG Therapies: From Bench to Bedside.

Authors:  Sandra Brasil; Carlota Pascoal; Rita Francisco; Dorinda Marques-da-Silva; Giuseppina Andreotti; Paula A Videira; Eva Morava; Jaak Jaeken; Vanessa Dos Reis Ferreira
Journal:  Int J Mol Sci       Date:  2018-04-27       Impact factor: 5.923

9.  Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia.

Authors:  Lily Zhang; Xiao Mao; Hongyu Long; Bo Xiao; Zhaohui Luo; Wenbiao Xiao; Xingbing Jin
Journal:  Front Genet       Date:  2020-06-16       Impact factor: 4.599

Review 10.  Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.

Authors:  Hadley Stevens Smith; J Michael Swint; Seema R Lalani; Jose-Miguel Yamal; Marcia C de Oliveira Otto; Stephan Castellanos; Amy Taylor; Brendan H Lee; Heidi V Russell
Journal:  Genet Med       Date:  2018-05-14       Impact factor: 8.822
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