The epilepsies are one of the most
common serious brain disorders, can occur at all ages, and have many possible
presentations and causes. Although
incidence in childhood has fallen over the past three decades in developed
countries, this reduction is matched
by an increase in elderly people. Monogenic Mendelian epilepsies are rare. A
clinical syndrome often has multiple
possible genetic causes, and conversely, diff erent mutations in one gene can
lead to various epileptic syndromes.
Most common epilepsies, however, are probably complex traits with
environmental eff ects acting on
inherited susceptibility, mediated by common variation in particular genes.
Diagnosis of epilepsy remains
clinical, and neurophysiological investigations assist with diagnosis of the
syndrome.
Brain imaging is making great
progress in identifying the structural and functional causes and consequences
of the
epilepsies. Current antiepileptic
drugs suppress seizures without infl uencing the underlying tendency to
generate
seizures, and are eff ective in
60–70% of individuals. Pharmacogenetic studies hold the promise of being able
to
better individualise treatment for
each patient, with maximum possibility of benefi t and minimum risk of adverse
eff ects. For people with refractory
focal epilepsy, neurosurgical resection off ers the possibility of a
life-changing
cure. Potential new treatments include
precise prediction of seizures and focal therapy with drug delivery, neural
stimulation, and biological grafts. Epilepsy
is a disorder of the brain characterised by an enduring predisposition to generate epileptic seizures, and
epileptogenesis is the development of a neuronal network in which spontaneous
seizures occur. Epilepsy aff ects the whole age range from neonates to elderly people,
and has varied causes and manifestations, with many distinct seizure types,
several identifi able syndromes, but also much that is poorly classifi ed.
There are very many comorbidities that complicate assessment and treatment
planning, including learning disabilities, fixed neurological defi cits,
progressive conditions, psycholo gical and psychiatric problems, and, particularly
in the older age group, concomitant medical conditions. Classifi cation of
epileptic seizures and syndromes is continually evolving. The present proposed
classifi cation is across fi ve axes that consider seizure types, focal or generalised
seizure onset, the syndrome, causation, and associated defi cits.1 Here, we
have defi ned individuals aged 16 years and older as adults. The UK National Institute
for Health and Clinical Excellence (NICE) produced in October 2004 detailed
evidence-based
guide lines2
for the clinical management of
individuals with epilepsy (panel). Other guidelines include those of the
American Academy of Neurology and the Scottish Intercollegiate Guidelines
Network. Stigma and prejudice mark epilepsy out from other neurological
conditions. The past decade has seen considerable progress in epilepsy
research, and
improvement in public understanding.
Much, however, remains to be done,
especially for people for whom drugs
are ineff ective. An important issue
that needs urgent attention is the fact that most people with epilepsy live in
resource-poor countries where the
management of epilepsy is inconsistent.
There is a great diagnostic gap in
large parts of the world because
there are too few trained personnel and medical facilities. The WHO-led Global
Campaign Against Epilepsy with the
active support of the International League Against Epilepsy and International
Bureau for Epilepsy (the two major
international non-governmental organisations in epilepsy) is seeking to address
these issues.3,4 Additionally, there is a large treatment gap in resource-poor
countries, and worldwide,
less than 20% of people with the
disorder are estimated to be treated at any time.5,6 However, resolving these
diffi culties will require
tremendous eff ort and will take time to achieve. Most of what we discuss here
relates to
diagnosis and treatment of epilepsy
as seen in the developed world. We hope that before long, the same standards
will be achieved in resource-poor countries.