This article focuses on investigating adults with early-onset epilepsy and intellectual or physical disability within adult neurology services. We aim to guide general neurologists in the diagnostic reassessment of people with epilepsy and complex neurological problems of unknown cause. Following an overview, we address imaging, electroencephalography, genetic studies and metabolic testing, and give examples where diagnosis directly influences treatment. Aetiological diagnosis serves to inform prognosis, guide treatment and provide a framework for genetic counselling.
- intellectual disability
- physical disability
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Contributors LN planned the manuscript, wrote the framework and significant sections and guided and edited the whole. RS wrote the section on neurophysiology, produced the tables on malformations of cortical development and electroclinical syndromes and contributed to selected conditions. NM wrote the section on mitochondrial disease and contributed to selected conditions. EM wrote the section on metabolic disorders, provided related figures and tables, helped edit the overall manuscript and contributed to selected conditions.
Funding EM’s contribution to this work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme.
Competing interests LN has been on an advisory board for GW Pharmaceuticals. EM has been the recipient of grants/research support from Nutricia UK, Shire Pharmaceuticals UK and Sanofi Genzyme. She has been in receipt of honoraria or consultation fees from Vitaflo UK and funding to undertake clinical trial work from Sanofi Genzyme, Shire Pharmaceuticals UK, Biomarin Pharmaceutical, Ultragenyx Pharmaceutical Inc., Synageva Biopharma Corp. and Amicus Therapeutics.
Patient consent Not required.
Provenance and peer review Commissioned; externally peer reviewed by Mike Kerr, Cardiff, UK, and Owen Pickrell, Cardiff, UK.
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