Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with <scp>medium‐chain acyl‐coenzyme</scp> A dehydrogenase deficiency-Reference-Cited by-同舟云学术

Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency

Published:2022-08-17 Issue:4 Volume:7 Page:810-816
ISSN:2470-9239
Container-title:Epilepsia Open
language:en
Short-container-title:Epilepsia Open

Author:

Cani Ilaria¹,Pondrelli Federica¹,Licchetta Laura²^ORCID,Minardi Raffaella²,Giangregorio Tania³,Mostacci Barbara²,Muccioli Lorenzo¹^ORCID,Di Vito Lidia²,Fetta Anna³^ORCID,Barba Carmen⁴⁵^ORCID,Castioni Carlo Alberto²,Bordugo Andrea⁶,Tinuper Paolo¹²,Bisulli Francesca¹²^ORCID

Affiliation:

1. Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy

2. IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna Italy

3. Department of Medical and Surgical Sciences University of Bologna Bologna Italy

4. Neuroscience Department Meyer Children's Hospital Firenze Italy

5. University of Florence Florence Italy

6. Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases Azienda Ospedaliera Universitaria Integrata Verona Italy

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12630

Reference25 articles.

1. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

2. Prevalence and incidence of epilepsy

3. Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late

4. Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review;Molecular Genetics and Metabolism Reports;2024-09

2. Drug resistance in epilepsy;The Lancet Neurology;2023-08