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

Charuta Joshi; Diana L. Kolbe; M. Adela Mansilla; Sara Mason; Richard J.H. Smith; Colleen A. Campbell

doi:10.1016/j.braindev.2016.04.004

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

Charuta Joshi, Diana L. Kolbe, M. Adela Mansilla, Sara Mason, Richard J.H. Smith, Colleen A. Campbell

Research output: Contribution to journal › Article › peer-review

31 Scopus citations

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.

Original language	English (US)
Pages (from-to)	848-851
Number of pages	4
Journal	Brain and Development
Volume	38
Issue number	9
DOIs	https://doi.org/10.1016/j.braindev.2016.04.004
State	Published - 2016
Externally published	Yes

Keywords

Epileptic encephalopathy
Ketogenic diet
PIGA
Whole exome sequencing

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/j.braindev.2016.04.004

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title = "Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency",

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.",

keywords = "Epileptic encephalopathy, Ketogenic diet, PIGA, Whole exome sequencing",

author = "Charuta Joshi and Kolbe, {Diana L.} and Mansilla, {M. Adela} and Sara Mason and Smith, {Richard J.H.} and Campbell, {Colleen A.}",

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AU - Joshi, Charuta

AU - Kolbe, Diana L.

AU - Mansilla, M. Adela

AU - Mason, Sara

AU - Smith, Richard J.H.

AU - Campbell, Colleen A.

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

KW - Epileptic encephalopathy

KW - Ketogenic diet

KW - PIGA

KW - Whole exome sequencing

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JO - Brain and Development

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

Abstract

Keywords

ASJC Scopus subject areas

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