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Juvenile Myoclonic epilepsy (JME)
Related Subjects: |Status Epilepticus (Epilepsy) |Coma management |Lorazepam |Phenytoin |Levetiracetam |Epilepsy - General Management |First Seizure |Epilepsy in Pregnancy |Febrile seizures
🧠 About
- Juvenile Myoclonic Epilepsy (JME) is a classic genetic generalised epilepsy. Myoclonic jerks are often misinterpreted as clumsiness, leading to delayed diagnosis.
- ⚠️ Can deteriorate with inappropriate antiseizure medicines (carbamazepine, phenytoin, vigabatrin).
- Non-progressive condition with preserved intellect and normal neurological examination.
🧬 Aetiology & Genetics
- Strong heritable component with altered thalamocortical excitability.
- Positive family history in ~50% of patients.
- Mild female predominance; multiple susceptibility genes suspected rather than a single defect.
📊 Epidemiology
- Prevalence: ~1 in 2000.
- Onset typically between 10–18 years.
- Typical sequence: childhood absence → adolescent myoclonus → generalised tonic–clonic seizures in late teens.
⚡ Seizure Types
- Absence Seizures: Brief lapses in awareness, often shortly after waking.
- Myoclonic Jerks: Sudden bilateral upper-limb jerks within an hour of waking — the classic “🍳 breakfast-time” phenomenon.
- Generalised Tonic–Clonic Seizures: Commonly follow clusters of morning myoclonus.
🔍 Clinical Features & Triggers
- Morning predominance of all seizure types.
- Triggers include sleep loss, alcohol (especially next morning), stress, and photic activation in some.
- No cognitive decline, behavioural regression, or motor deterioration.
🧪 Investigations
- EEG: Generalised 3–6 Hz polyspike–wave discharges. Markedly enhanced by sleep-deprivation, hyperventilation, or photic stimulation.
- MRI: Typically normal; used to exclude structural mimics.
- Bloods: Normal; performed to rule out metabolic provocation.
💊 Management
- Long-term antiseizure therapy is usually required due to high relapse risk.
- First-line: Sodium valproate (most effective; avoid in women of childbearing potential).
- Alternatives: Levetiracetam, topiramate, lamotrigine (may aggravate myoclonus), and zonisamide.
- Avoid: Carbamazepine, phenytoin, gabapentin, vigabatrin — all may worsen generalised epilepsies.
- Lifestyle: Emphasise sleep hygiene, alcohol moderation, and strict adherence to medication.
📌 References
- Strong heritable component with altered thalamocortical excitability.
- Positive family history in ~50% of patients.
- Mild female predominance; multiple susceptibility genes suspected rather than a single defect.
📊 Epidemiology
- Prevalence: ~1 in 2000.
- Onset typically between 10–18 years.
- Typical sequence: childhood absence → adolescent myoclonus → generalised tonic–clonic seizures in late teens.
⚡ Seizure Types
- Absence Seizures: Brief lapses in awareness, often shortly after waking.
- Myoclonic Jerks: Sudden bilateral upper-limb jerks within an hour of waking — the classic “🍳 breakfast-time” phenomenon.
- Generalised Tonic–Clonic Seizures: Commonly follow clusters of morning myoclonus.
🔍 Clinical Features & Triggers
- Morning predominance of all seizure types.
- Triggers include sleep loss, alcohol (especially next morning), stress, and photic activation in some.
- No cognitive decline, behavioural regression, or motor deterioration.
🧪 Investigations
- EEG: Generalised 3–6 Hz polyspike–wave discharges. Markedly enhanced by sleep-deprivation, hyperventilation, or photic stimulation.
- MRI: Typically normal; used to exclude structural mimics.
- Bloods: Normal; performed to rule out metabolic provocation.
💊 Management
- Long-term antiseizure therapy is usually required due to high relapse risk.
- First-line: Sodium valproate (most effective; avoid in women of childbearing potential).
- Alternatives: Levetiracetam, topiramate, lamotrigine (may aggravate myoclonus), and zonisamide.
- Avoid: Carbamazepine, phenytoin, gabapentin, vigabatrin — all may worsen generalised epilepsies.
- Lifestyle: Emphasise sleep hygiene, alcohol moderation, and strict adherence to medication.
📌 References
- Absence Seizures: Brief lapses in awareness, often shortly after waking.
- Myoclonic Jerks: Sudden bilateral upper-limb jerks within an hour of waking — the classic “🍳 breakfast-time” phenomenon.
- Generalised Tonic–Clonic Seizures: Commonly follow clusters of morning myoclonus.
🔍 Clinical Features & Triggers
- Morning predominance of all seizure types.
- Triggers include sleep loss, alcohol (especially next morning), stress, and photic activation in some.
- No cognitive decline, behavioural regression, or motor deterioration.
🧪 Investigations
- EEG: Generalised 3–6 Hz polyspike–wave discharges. Markedly enhanced by sleep-deprivation, hyperventilation, or photic stimulation.
- MRI: Typically normal; used to exclude structural mimics.
- Bloods: Normal; performed to rule out metabolic provocation.
💊 Management
- Long-term antiseizure therapy is usually required due to high relapse risk.
- First-line: Sodium valproate (most effective; avoid in women of childbearing potential).
- Alternatives: Levetiracetam, topiramate, lamotrigine (may aggravate myoclonus), and zonisamide.
- Avoid: Carbamazepine, phenytoin, gabapentin, vigabatrin — all may worsen generalised epilepsies.
- Lifestyle: Emphasise sleep hygiene, alcohol moderation, and strict adherence to medication.
📌 References
- EEG: Generalised 3–6 Hz polyspike–wave discharges. Markedly enhanced by sleep-deprivation, hyperventilation, or photic stimulation.
- MRI: Typically normal; used to exclude structural mimics.
- Bloods: Normal; performed to rule out metabolic provocation.
💊 Management
- Long-term antiseizure therapy is usually required due to high relapse risk.
- First-line: Sodium valproate (most effective; avoid in women of childbearing potential).
- Alternatives: Levetiracetam, topiramate, lamotrigine (may aggravate myoclonus), and zonisamide.
- Avoid: Carbamazepine, phenytoin, gabapentin, vigabatrin — all may worsen generalised epilepsies.
- Lifestyle: Emphasise sleep hygiene, alcohol moderation, and strict adherence to medication.
📌 References
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