Getting an Epilepsy Diagnosis in Australia

Getting an epilepsy diagnosis: why a normal EEG proves nothing

There is a sentence that causes more confusion in epilepsy than any other, and it is usually delivered as reassurance: “Your EEG was normal.”

A routine EEG records twenty to thirty minutes of brain activity. Epilepsy is a tendency to have seizures that, for most people, occur rarely. The chance of catching abnormal activity in a half-hour window in somebody who has a seizure once a month is modest — and a substantial proportion of people with unambiguous epilepsy have normal routine EEGs. A normal EEG does not rule out epilepsy.

The reverse is also true and less often said. Minor EEG abnormalities turn up in people who have never had a seizure and never will. An abnormal EEG does not, by itself, diagnose epilepsy.

Which leaves the uncomfortable fact at the centre of this subject: epilepsy is diagnosed clinically, from the description of what happened. The tests support that description, identify a cause, and classify the epilepsy. They do not replace it. Which is why the most valuable thing in the whole diagnostic process is not a scan. It is a witness, and ideally a phone video.

This guide covers what the diagnosis actually rests on, what each test does and does not do, what gets confused with epilepsy, how long it takes in Australia, and what to ask for when things are not moving.

What the diagnosis rests on

The history. What happened, in sequence, in as much detail as anybody can give. A neurologist is building a picture from:

What the person noticed first. Any warning sensation — a rising feeling in the stomach, a smell, déjà vu, fear, a tingling. These are focal aware seizures, and their nature indicates where in the brain the seizure begins. People frequently do not mention them, because they sound strange and because they have had them for years and assumed they were normal.

What a witness saw in the first few seconds. The single most valuable piece of information. Did the head or eyes turn to one side? Did one hand move first? Did the person stiffen on one side? That opening detail is what distinguishes a focal seizure that spread into a convulsion from a primary generalised one — and that distinction changes the medication and determines whether surgery could ever be an option.

Whether awareness was affected, and how anybody could tell.

Duration, timed. Witnesses consistently overestimate seizure length, often substantially, which is entirely understandable in a frightening situation and is why the clock matters.

Automatisms — lip smacking, chewing, picking at clothes, fumbling, wandering.

The recovery. How long, how confused, any weakness on one side afterwards, any difficulty finding words. Prolonged confusion suggests a seizure; rapid clear-headed recovery suggests a faint.

The circumstances. Standing up, in the shower, during exercise, in sleep, on waking, after alcohol, after a late night, during an illness, around a period.

The background. Birth and development, head injuries, meningitis or encephalitis, febrile convulsions in childhood, family history, alcohol and drug use, current medications, and mood.

And the video. Every Australian epilepsy service says the same thing: film it. A thirty-second phone video of a typical event, taken with the person’s consent, settles questions that months of description cannot. It is the highest-value thing a family can contribute, it costs nothing, and most people are never told to do it.

What the tests actually do

EEG

An EEG records electrical activity through electrodes on the scalp. It is looking for epileptiform discharges — spikes and sharp waves — between seizures, which indicate a tendency to seizures, and for the pattern of those discharges, which helps classify the epilepsy.

What it is good for: classifying epilepsy once a diagnosis is suspected. Distinguishing generalised from focal epilepsy, which determines medication choice. Identifying specific syndromes — the three-per-second generalised spike-wave of childhood absence epilepsy is close to diagnostic.

What it is not good for: proving or disproving epilepsy from a single routine recording.

How to improve the yield:

Sleep deprivation. A sleep-deprived EEG, where the person stays up late or all night beforehand, is considerably more likely to show abnormalities. If a routine EEG was normal and the clinical suspicion remains, this is the next step to ask about.

Hyperventilation and photic stimulation, done routinely during the recording. Hyperventilation provokes absences; photic stimulation tests for photosensitivity, which affects only a small minority of people with epilepsy.

Capturing sleep, because discharges are often more frequent in drowsiness and sleep.

Repeating it. The yield rises with repeated recordings.

MRI

Not an alternative to EEG — a different question. The EEG asks what the brain is doing; the MRI asks what the brain looks like.

What it is looking for: hippocampal sclerosis, cortical malformations, scarring from injury or infection, vascular malformations, tumours, and the subtle developmental abnormalities that cause focal epilepsy.

Why it matters enormously: a structural abnormality on MRI is the main predictor of whether epilepsy surgery is possible. Somebody with drug-resistant focal epilepsy and a clear lesion on MRI is in a quite different position from somebody with a normal scan.

And the quality of the scan matters. A general MRI protocol will miss things an epilepsy-specific protocol finds — thinner slices, particular sequences, oriented to the hippocampus. If somebody has drug-resistant epilepsy and a “normal MRI” done years ago on a general protocol, asking for a dedicated epilepsy-protocol MRI at a specialist centre is a reasonable and frequently productive request. Lesions get found on rescanning.

Video EEG monitoring

Admission to a monitoring unit for days, with continuous EEG and video, usually with medication reduced to provoke events.

What it answers, and it is the definitive test for each:

Are these events epileptic at all? This is the main reason it is done. Video EEG is the only reliable way to distinguish epileptic seizures from functional or dissociative seizures — and Epilepsy Action Australia’s material notes that approximately one in five people referred to a neurologist for drug-resistant epilepsy have functional or dissociative seizures. See functional and dissociative seizures.

Where exactly do the seizures start? Required before any consideration of surgery.

Are there two different event types? Many people have both epileptic and non-epileptic events, and treating them as one thing fails.

Access in Australia is limited — monitoring beds are concentrated in a small number of tertiary centres with waiting lists. It is also the single most informative investigation in difficult epilepsy, which is why the referral is worth pressing for.

Other tests

Blood tests, including electrolytes, calcium, magnesium, glucose, liver and kidney function, and a full blood count — looking for provoking causes and establishing a baseline before medication.

ECG, in everyone. This is the one most often skipped and it matters: cardiac arrhythmia can cause collapse that looks like a seizure, and some inherited arrhythmia syndromes present that way. An ECG in anybody with unexplained collapse is standard and cheap.

Genetic testing, now standard in early-onset, severe or syndromic epilepsies, because the result sometimes changes which medication is used.

Lumbar puncture, where infection or autoimmune encephalitis is suspected.

Autoimmune antibody testing, in new-onset epilepsy with psychiatric or cognitive features — because autoimmune encephalitis is treatable with immunotherapy and is the diagnosis most costly to miss.

PET, SPECT, MEG and neuropsychological assessment, in the pre-surgical workup.

What gets confused with epilepsy

Syncope — a faint. The commonest misdiagnosis in both directions. Brief jerking during a faint is normal and alarming, and it convinces witnesses they have seen a seizure. Features pointing to syncope: a trigger such as standing up, pain, heat or the sight of blood; lightheadedness or visual greying beforehand; pallor; rapid and clear-headed recovery. Cardiac syncope — collapse during exertion, while lying down, or with no warning at all, particularly with a family history of sudden death — is the dangerous version and needs an ECG and cardiology assessment.

Functional or dissociative seizures, covered in their own guide.

Parasomnias — night terrors, sleepwalking, confusional arousals — which can look very like nocturnal frontal lobe seizures.

Migraine with aura.

Transient ischaemic attack, which typically causes loss of function rather than the positive phenomena seizures produce.

Panic attacks, and hyperventilation.

Hypoglycaemia, which is reversible and should be excluded.

Movement disorders, tics and stereotypies — the commonest confusion in people with autism or intellectual disability, and one that runs in both directions. See epilepsy and intellectual disability.

And in children: breath-holding attacks, reflex anoxic seizures, benign sleep myoclonus of infancy, and self-gratification behaviour, all of which get referred as seizures and none of which are.

The Australian reality on timing

Honest about this, because managing expectations is useful.

For a first seizure, the pathway is usually an emergency department, then a neurology referral. In most states the public neurology wait for a non-urgent referral is months. A seizure is generally triaged more urgently than that, and “first seizure clinics” exist in some centres.

Diagnosis can be delayed one to four years, according to Australian analysis of drug-resistant epilepsy — and that is before the separate delay to specialist assessment once it becomes clear medication is not working.

Why the delays happen: Australia has around 550 neurologists, 93 per cent of them in metropolitan areas, and few tertiary epilepsy centres. Nothing exists nationally to govern how referral or management should work. An Australian study found only 35 per cent of surveyed GPs knew the definition of drug-resistant epilepsy, and 88 per cent wanted more information about epilepsy. In many areas a GP cannot refer directly to a tertiary epilepsy centre at all — a neurologist has to.

What that means for you: the system responds to specific, named requests far better than to general concern. The requests that work are below.

What to ask for, in these words

“Can I have an ECG?” Cheap, quick, and excludes the cardiac causes that must not be missed. Should be done in anybody with unexplained collapse.

“Can I have a sleep-deprived EEG?” The single most useful follow-up when a routine EEG was normal and suspicion remains.

“Can I have an MRI, and is it an epilepsy protocol?” And if there is drug-resistant epilepsy with an older “normal” scan: “Can I have a repeat MRI on an epilepsy protocol at a specialist centre?”

“Has autoimmune encephalitis been considered?” Particularly with new-onset seizures alongside memory, psychiatric or behavioural change.

“What is my seizure type, my epilepsy type, and is there a syndrome?” Get the answer in writing. Everything downstream — medication choice, prognosis, driving, pregnancy planning — follows from it.

“Am I on the right medication for this seizure type?” Because some drugs that suit focal seizures make generalised seizures worse. See epilepsy medications.

“Can I be referred for video EEG monitoring?” Where the diagnosis is uncertain, where events continue despite treatment, or where there may be two event types.

And the single most important sentence in this library: “I have tried two medications and I am still having seizures. Can I be referred to a comprehensive epilepsy centre?” Two failed, properly-trialled medications is the definition of drug-resistant epilepsy, and it is the trigger for specialist assessment rather than a third drug. See drug-resistant epilepsy.

Free help that most people never use

Two Australian services answer the questions a short appointment leaves behind, and both are free.

Epilepsy Action Australia on 1300 37 45 37, where you can book a telehealth appointment with an epilepsy nurse.

The Epilepsy Foundation runs the National Epilepsy Support Service, on 1300 761 487.

Nurse-led epilepsy services are good at exactly the things neurologists have no time for: what the test results mean, how to take the medication, what the driving rules are in your state, what to record, what to do about side effects, and whether what you are experiencing is normal. Ringing one of them after a diagnosis appointment is probably the highest-value twenty minutes available.

After the diagnosis: the first month

What to get sorted while the appointment is still fresh, because the system will not prompt you.

Get the diagnosis in writing, with the seizure type, the epilepsy type, the syndrome if one has been identified, and what the EEG and MRI showed. Everything downstream depends on this document, and chasing it later takes weeks.

Notify the driver licensing authority. A legal obligation, and non-disclosure can void your insurance cover entirely. Ask which seizure-free period applies to your situation, because the categories differ and people are frequently placed in the default when they qualify for a shorter period. See driving, work and independence.

Start a seizure diary today. Date, time, description, duration, and what preceded it — sleep, alcohol, missed doses, illness, stress, cycle phase. Eight weeks of this reveals patterns that recollection cannot, and it is the most useful thing you will bring to the next appointment.

Set the medication up to succeed. Ask what to do about a missed dose and about vomiting after a dose, and write the answers down. Ask if the drug comes in a form you take once or twice a day instead. Get a blister pack from the pharmacy. Set a phone alarm tied to something you already do. See epilepsy medications.

Ask about contraception if it applies, in both directions — some anti-seizure medications make hormonal contraception fail, and some contraceptives change medication levels. This catches people out and the consequences are large.

If you might become pregnant, ask which drug you are on and why. Before a pregnancy, not during one. See women and epilepsy.

Ask about SUDEP. If it is not raised, raise it — Australian guidance says the best time to discuss it is at diagnosis, and that doctors frequently do not. See SUDEP.

Sort out the basics at home: showers rather than baths, never swim alone, guards on heaters, and medical identification.

Tell two or three people, including somebody at work, and give them a one-page plan of what to do.

And ring a free epilepsy nurse — Epilepsy Action Australia on 1300 37 45 37 or the National Epilepsy Support Service on 1300 761 487. Twenty minutes with somebody whose whole job is this condition is probably the best value in the entire process.