Contemporary scope of inborn errors of metabolism involving epilepsy or seizures

Metabolic Brain Disease
Birutė TumienėAlgirdas Utkus

Abstract

Many inborn errors of metabolism may present with epilepsy or seizures, however, current scope of these diseases is unknown. Due to available precision medicine approaches in many inborn errors of metabolism and sophisticated traditional diagnostics, this group of disorders is of special relevance to clinicians. Besides, as current treatment is challenging and unsuccessful in more than 30% of all epilepsy patients, these diseases may provide valuable models for ictogenesis and epileptogenesis studies and potentially pave the ways to identification of novel treatments. The aim of this study was to elucidate genetic architecture of inborn errors of metabolism involving epilepsy or seizures and to evaluate their diagnostic approaches. After extensive search, 880 human genes were identified with a considerable part, 373 genes (42%), associated with inborn errors of metabolism. The most numerous group comprised disorders of energy metabolism (115, 31% of all inborn errors of metabolism). A substantial number of these diseases (26%, 97/373) have established specific treatments, therefore timely diagnosis comes as an obligation. Highly heterogenous, overlapping and non-specific phenotypes in most of inborn errors of metabolism present...Continue Reading

References

Jan 1, 2010·Nature Reviews. Drug Discovery·Meir Bialer, H Steve White
Jul 22, 2010·Nature Reviews. Neurology·Deb K PalWendy K Chung
Aug 16, 2011·Molecular Genetics and Metabolism·Johan L K Van Hove, Naomi J Lohr
Sep 24, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Mario MastrangeloVincenzo Leuzzi
May 23, 2012·Epilepsia·Johannes R LemkeSaskia Biskup
Sep 25, 2012·Developmental Medicine and Child Neurology·Shamima RahmanPeter T Clayton
Dec 18, 2013·Seminars in Pediatric Neurology·Divya S KhuranaAgustín Legido
Dec 18, 2013·Neurología : publicación oficial de la Sociedad Española de Neurología·J López-PisónJ L Peña-Segura
Jan 29, 2014·Brain : a Journal of Neurology·Anna L PeljtoRuth Ottman
May 23, 2014·European Journal of Human Genetics : EJHG·Erika Della MinaOrsetta Zuffardi
Jun 20, 2014·Lancet Neurology·Olivier DulacNicole I Wolf
Jul 30, 2014·Brain : a Journal of Neurology·Doug SpeedMichael R Johnson
Aug 26, 2014·AJR. American Journal of Roentgenology·Mohannad IbrahimAshok Srinivasan
Dec 6, 2014·Neuroimaging Clinics of North America·Maria Gabriela LongoLeonardo Modesti Vedolin
Mar 5, 2015·Journal of Inherited Metabolic Disease·Saskia B WortmannRichard J Rodenburg
Mar 31, 2015·Epilepsia·Saadet Mercimek-MahmutogluO Carter Snead
Apr 16, 2015·Journal of Inherited Metabolic Disease·Stefan KölkerPeter Burgard
Aug 22, 2015·Lancet Neurology·Gábor Zsurka, Wolfram S Kunz
Sep 30, 2015·Lancet Neurology·UNKNOWN EpiPM Consortium
Nov 6, 2015·Journal of Genetic Counseling·Chelsea ChambersRadhika Dhamija
Jan 23, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Katherine L HelbigIngo Helbig
Feb 5, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glen R MonroeGijs van Haaften
Nov 1, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zornitza StarkSusan M White
Dec 3, 2016·American Journal of Human Genetics·Niklas DarinPeter T Clayton
Feb 6, 2017·Journal of Neuroscience Research·Evgeniya SamokhinaYuri Zilberter

❮ Previous
Next ❯

Citations

Feb 9, 2019·Journal of Inherited Metabolic Disease·Alfonso Oyarzabal, Isaac Marin-Valencia
Oct 16, 2018·Frontiers in Pharmacology·Jaya KumarSrijit Das

❮ Previous
Next ❯

Methods Mentioned

BETA
glycosylation
biopsies
exome sequencing

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Ryōikibetsu shōkōgun shirīzu
Michinori Ito
Pediatrics in Review
Gregory M Rice, Robert D Steiner
Developmental Medicine and Child Neurology
Svetlana GataullinaOlivier Dulac
The Journal of the Singapore Paediatric Society
H B Wong
© 2022 Meta ULC. All rights reserved