Idiopathic Generalized Epilepsy Syndromes
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
|
|
||||
---|---|---|---|---|---|
Benign neonatal Convulsions age of onset | Day 1 to 7, peak day 5 of life
🗑
|
||||
Clinical features of Benign neonatal convulsions | PArtial clonic, may migrate, apnea, rare tonic, many progress to status epilepticus
🗑
|
||||
EEG features of benign neonatal convulsions | Normal, excessively discontinous, focal or multifocal discharges
🗑
|
||||
Genetics of benign neonatal convulsions | Idiopathic
🗑
|
||||
Treatment of benign neonatal convulsions | Phenobarbital, Fosphenytoin, Benzodiazepins
🗑
|
||||
Prognosis of Benign neonatal convulsions | Excellent, rare recurrence of seizures
🗑
|
||||
Age of onset of BFNC | Majority durng neonatal period, typically during first week of life
🗑
|
||||
EEG features of BFNC | May be normal or show transiet changes, including focal epileptiform discharges
🗑
|
||||
Clinical features of BFNC | Tonic-clonic, apnea, autonomic phenomena, normal behavior interictally
🗑
|
||||
Genetics of BFNC | Autosomal dominant, 85% penetrance
🗑
|
||||
BFNC1 is due to mutation in... | KCNQ2, 20q13.3
🗑
|
||||
BFNC2 is due to mutation in... | KCNQ3, 8q24
🗑
|
||||
Treatment of BFNC | Resolves spontaneously
🗑
|
||||
Prognosis of BFNC | Seizures usually remit by midinfancy, 10-16% will later develop epilepsy
🗑
|
||||
Age at onset of Benign myoclonic epilepsy | 4 months to 3 years
🗑
|
||||
Clinical features of Benign Myoclonic epilepsy | Myoclonic seizures, Absences, Rare GTC
🗑
|
||||
EEG features of Benign Myoclonic epilepsy | Generalized polyspie-and-wave discharges
🗑
|
||||
Genetics of Benign Myoclonic epilepsy | Unknown but 31% have a family history
🗑
|
||||
Treatment of Benign Myoclonic epilepsy | Valproate
🗑
|
||||
Prognosis of Benign Myoclonic Epilepsy | Excellent
🗑
|
||||
Age at onset of GEFS+ Generalized epilepsy with febrile seizures plus | Infancy to adolescence
🗑
|
||||
Clinical features of GEFS+ | Febrile seizures beyond age 6, and afebrile myoclonic, astatic, tonic-clonic, absence and complex partial seizures
🗑
|
||||
EEG features of GEFS+ | May be normal or show generalized spike-and-wave or focal discharges
🗑
|
||||
Genetics of GEFS+ | Autosomal dominant, up to 80% penetrance
🗑
|
||||
Genes linked to GEFS+ | SCN1B on 19q13, SCN1A on 2q24, GABRG2 on 5q33-q34
🗑
|
||||
Age of onset of Myoclonic astatic epilepsy | 7m to 8y, peak 2-6y
🗑
|
||||
Clinical features of MAE | Myoclonic, Atonic-astatic, Myoclonic-astatic, Absences, tonic
🗑
|
||||
EEG features of MAE | Normal at onset, later slowing of the background and 2-3Hz generalized irregular spike-and-wave discharges
🗑
|
||||
Genetics of MAE | Family history of seizures in 32%
🗑
|
||||
Treatment of MAE | Valproate, ethosuximide, benzodiazepines... Lamotrigine may be used to treat GCT seizures
🗑
|
||||
Drugs that must be avoided in MAE | Carbamazepine and vigabatrin
🗑
|
||||
PRognosis of MAE | May be favorable in 50% to 89% although up to 41% may have borderline Iq or mental handicap, and some will develop intractable epilepsy
🗑
|
||||
Age at onset of Childhood absence epilepsy CAE | 2 to 12 years
🗑
|
||||
Clinical features of CAE | More common in girls, Many brief seizures per day. Staring, behavioral arrest without aura or postictal symptoms
🗑
|
||||
EEG features of CAE | Normal background with 3Hz generalized spike-and-wave discharges
🗑
|
||||
Genetics of CAE | Possibly autosomal dominant, linked to 20q and 8q24.3
🗑
|
||||
Treatment of CAE | Ethosuximide, Valproate, Lamotrigine
🗑
|
||||
Prognosis of CAE | Patients typically have remission 2 to 6 years after
🗑
|
||||
Age at onset of Eyelid myoclonia with and without absences | 2 to 14y, peak 6 to 8 years
🗑
|
||||
Clinical features of Eyelid myoclonia with and without absences | Myoclonia of eyelids, upward deviation of eyes, and retropulsion fo the head with or without impairment of conciousness, mainly after eye closure. GTC
🗑
|
||||
EEG features of eyelid myoclonia with and without absences | Frequent high-amplitude 3-6Hz generaliad spike and polyspike-and-wave discharges, typically seen with eye closure
🗑
|
||||
Genetics of Eyelid myoclonia with and without absences | Unknown, but most have a family history of epilepsy
🗑
|
||||
Treatment of Eyelid myoclonia with and without absences | Valproate, ethosuximide, clonazepam, possibly levetiracetam
🗑
|
||||
Prognosis of Eyelid myoclonia with and without absences | Resistant to treatment and the syndrome is lifelong, even in those with well-controlled seizures
🗑
|
||||
Age at onset of Perioral myoclonia with absences | 2-13 years, median 10 years
🗑
|
||||
Clinical features of Perioral myoclonia with absences | Absence with ictal perioral myoclonia, GTC seizures, Frequent absence status epilepticus
🗑
|
||||
EEG features of Perioral myoclonia with absences | Bursts of 4-7Hz generalized, but often asymmetric, spike and polyspike-and-wave, may have focal discharges, ictal EEG 3-4Hz irregular generalized spike and polyspike-and wave discharges
🗑
|
||||
Genetics of Perioral myoclonia with absences | Unknown, but 50% have a first-degree relative with idiopathic generalized epilepsy and absences
🗑
|
||||
Treatment of Perioral myoclonia with absences | Valrpoate alone or with ethosuximide, lamotrigine, clonazepam; absence status epilepticus should be trated with benzodiazepines
🗑
|
||||
Prognosis of Perioral myoclonia with absences | Usually resistant to medication and may be lifelong
🗑
|
||||
Age at onset of Epilepsy with myoclonic absences | 11m to 12y6m, mean 7y
🗑
|
||||
Clinical features of Epilepsy with myoclonic absences | Myoclonic absence seizures. GTC seizures. Absence. Seizures with fall. Absence status
🗑
|
||||
EEG features of Epilepsy with myoclonic absences | Generalized 3Hz with a strict correlation between EEG discharge and myoclonia
🗑
|
||||
Genetics of Epilepsy with myoclonic absences | 20% have a family history of epilepsy
🗑
|
||||
Treatment of Epilepsy with myoclonic absences | Valproate with ethosuximide, Benzodiazepines, Lamotrigine
🗑
|
||||
PRognosis of Epilepsy witn myoclonic absences | epilepsy improves in approx. 1/3
Presence of GTC seizures is a poor prognosis
🗑
|
||||
Age at onset of Juvenile myoclonic epilepsy, JME | Late childhood to late adolescence
🗑
|
||||
Clinical features of JME | Absence seizures in childhood. Myoclonus early adolescence. GTC adolescence
🗑
|
||||
EEG features of JME | Normal background with 3-4HZ generalized atypical spike-and-wave discharges
🗑
|
||||
Genetics JME | Complex inheritance linked to 6p, 18, 15q14, and 8q23.3-q24.1
🗑
|
||||
Treatment of JME | Valproate, Lamotrigine, Levetiracetam
🗑
|
||||
Prognosis of JME | Response to AED is usually good, but lifelong treatment is frequently required
🗑
|
||||
Age at onset of Juvenile absence epilepsy JAE | Adolescence
🗑
|
||||
Clinical features of JAE | Daily brief absence seizures, fewer than childhood absence epilepsy, GTC seizures
🗑
|
||||
EEG features of JAE | Normal bacground with 3-4Hz generalized spike-and-wave discharges
🗑
|
||||
Genetics of JAE | Possible localization to 21q22.1
🗑
|
||||
Treatment of JAE | Valproate, Lamotrigine, Ethosuximide
🗑
|
||||
Prognosis of JAE | Response to AED is usually good but lifelong treatment is frequently required
🗑
|
||||
Age at onset of Epilepsy with grand mal on awakening | 6-35 years
🗑
|
||||
Clinical features of Epilepsy w/GM on awakening | Seizures occur shortly after waking up, may be associated with absence or myoclonic seizures
🗑
|
||||
EEG features of Epilepsy w/GM on awakening | Slow background, generalized spike-and-wave discharges, photosensitivity
🗑
|
||||
Genetics of Epilepsy w/GM on awakening | Thought to be genetic; 3.3% have a first-degree relative w/epilepsy
🗑
|
||||
Prognosis of Epilepsy w/GM on awakening | Response to AED is good, but relapse occurs with AED discontinuation and sleep deprivation
🗑
|
||||
EEG features of Perioral myoclonia with absences | Bursts of 4-7Hz generalized, but often asymmetric, spike and polyspike-and-wave, may have focal discharges, ictal EEG 3-4Hz irregular generalized spike and polyspike-and wave discharges
🗑
|
||||
Genetics of Perioral myoclonia with absences | Unknown, but 50% have a first-degree relative with idiopathic generalized epilepsy and absences
🗑
|
||||
Treatment of Perioral myoclonia with absences | Valrpoate alone or with ethosuximide, lamotrigine, clonazepam; absence status epilepticus should be trated with benzodiazepines
🗑
|
||||
Prognosis of Perioral myoclonia with absences | Usually resistant to medication and may be lifelong
🗑
|
||||
Age at onset of Epilepsy with myoclonic absences | 11m to 12y6m, mean 7y
🗑
|
||||
Clinical features of Epilepsy with myoclonic absences | Myoclonic absence seizures. GTC seizures. Absence. Seizures with fall. Absence status
🗑
|
||||
EEG features of Epilepsy with myoclonic absences | Generalized 3Hz with a strict correlation between EEG discharge and myoclonia
🗑
|
||||
Genetics of Epilepsy with myoclonic absences | 20% have a family history of epilepsy
🗑
|
||||
Treatment of Epilepsy with myoclonic absences | Valproate with ethosuximide, Benzodiazepines, Lamotrigine
🗑
|
||||
PRognosis of Epilepsy witn myoclonic absences | epilepsy improves in approx. 1/3
Presence of GTC seizures is a poor prognosis
🗑
|
||||
Age at onset of Juvenile myoclonic epilepsy, JME | Late childhood to late adolescence
🗑
|
||||
Clinical features of JME | Absence seizures in childhood. Myoclonus early adolescence. GTC adolescence
🗑
|
||||
EEG features of JME | Normal background with 3-4HZ generalized atypical spike-and-wave discharges
🗑
|
||||
Genetics JME | Complex inheritance linked to 6p, 18, 15q14, and 8q23.3-q24.1
🗑
|
||||
Treatment of JME | Valproate, Lamotrigine, Levetiracetam
🗑
|
||||
Prognosis of JME | Response to AED is usually good, but lifelong treatment is frequently required
🗑
|
||||
Age at onset of Juvenile absence epilepsy JAE | Adolescence
🗑
|
||||
Clinical features of JAE | Daily brief absence seizures, fewer than childhood absence epilepsy, GTC seizures
🗑
|
||||
EEG features of JAE | Normal bacground with 3-4Hz generalized spike-and-wave discharges
🗑
|
||||
Genetics of JAE | Possible localization to 21q22.1
🗑
|
||||
Treatment of JAE | Valproate, Lamotrigine, Ethosuximide
🗑
|
||||
Prognosis of JAE | Response to AED is usually good but lifelong treatment is frequently required
🗑
|
||||
Age at onset of Epilepsy with grand mal on awakening | 6-35 years
🗑
|
||||
Clinical features of Epilepsy w/GM on awakening | Seizures occur shortly after waking up, may be associated with absence or myoclonic seizures
🗑
|
||||
EEG features of Epilepsy w/GM on awakening | Slow background, generalized spike-and-wave discharges, photosensitivity
🗑
|
||||
Genetics of Epilepsy w/GM on awakening | Thought to be genetic; 3.3% have a first-degree relative w/epilepsy
🗑
|
||||
Prognosis of Epilepsy w/GM on awakening | Response to AED is good, but relapse occurs with AED discontinuation and sleep deprivation
🗑
|
||||
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
1042022037
Popular Medical sets