Differences
This shows you the differences between two versions of the page.
Both sides previous revision Previous revision Next revision | Previous revisionLast revisionBoth sides next revision | ||
content:benign_familial_neonatal_epilepsy [2020/02/15 16:26] – [Clinical features] icna | content:benign_familial_neonatal_epilepsy [2022/04/30 11:31] – administrator@icnapedia.org | ||
---|---|---|---|
Line 1: | Line 1: | ||
====== Benign familial neonatal epilepsy ====== | ====== Benign familial neonatal epilepsy ====== | ||
Benign familial neonatal epilepsy is a rare autosomal dominant epileptic syndrome characterised by frequent brief seizures within the first days of life. | Benign familial neonatal epilepsy is a rare autosomal dominant epileptic syndrome characterised by frequent brief seizures within the first days of life. | ||
- | |||
===== Clinical features ===== | ===== Clinical features ===== | ||
* Seizures mainly occur in full-term normal neonates following a normal pregnancy and delivery and without precipitating factors. Seizures are brief, of 1–2 min and may be as frequent as 20–30 per day. | * Seizures mainly occur in full-term normal neonates following a normal pregnancy and delivery and without precipitating factors. Seizures are brief, of 1–2 min and may be as frequent as 20–30 per day. | ||
- | * Seizures usually start with tonic motor activity and posturing with apnoea followed by vocalisations, | + | * Seizures usually start with tonic motor activity and posturing with apnoea followed by vocalisations, |
* The tonic phase is followed by a clonic component which is usually asymmetrical and unilateral | * The tonic phase is followed by a clonic component which is usually asymmetrical and unilateral | ||
* The post-ictal state is brief | * The post-ictal state is brief | ||
* The neonate is asymptomatic interictally | * The neonate is asymptomatic interictally | ||
* Pure clonic or focal seizures are rarely seen[(: | * Pure clonic or focal seizures are rarely seen[(: | ||
- | |||
===== Electroencephalography ===== | ===== Electroencephalography ===== | ||
- | [{{ : | + | <WRAP right> |
- | * The inter-ictal EEG may be normal, discontinuous, | + | <figure fig1> |
+ | {{ : | ||
+ | < | ||
+ | </ | ||
+ | </ | ||
+ | |||
+ | * The inter-ictal EEG may be normal, discontinuous, | ||
* The apnoea and tonic motor activity corresponds to synchronous and bilateral flattening of 5–19s on the ictal EEG | * The apnoea and tonic motor activity corresponds to synchronous and bilateral flattening of 5–19s on the ictal EEG | ||
* followed by bilateral and often asymmetrical discharges of spikes and sharp waves with a duration of 1–2 min, coinciding with the vocalisations, | * followed by bilateral and often asymmetrical discharges of spikes and sharp waves with a duration of 1–2 min, coinciding with the vocalisations, | ||
Line 22: | Line 26: | ||
===== Pathophysiology ===== | ===== Pathophysiology ===== | ||
* Loss of function of heteromeric voltage-gated potassium channels that reduce the potassium current impairs repolarisation of the neuronal cell membrane results in hyperexcitability of the brain resulting in seizures. | * Loss of function of heteromeric voltage-gated potassium channels that reduce the potassium current impairs repolarisation of the neuronal cell membrane results in hyperexcitability of the brain resulting in seizures. | ||
- | * Okada et al(2002)[(: | + | * Okada et al(2002)[(: |
* Potassium channels shown differential expression at different stages of maturation which might be another explanation for the pathogenesis of BFNS[(: | * Potassium channels shown differential expression at different stages of maturation which might be another explanation for the pathogenesis of BFNS[(: | ||
===== Differential diagnosis ===== | ===== Differential diagnosis ===== | ||
* [[Benign neonatal seizures (non-familial)]] | * [[Benign neonatal seizures (non-familial)]] | ||
+ | |||
+ | |||
^ ^ Benign (non-familial) neonatal seizures | ^ ^ Benign (non-familial) neonatal seizures | ||
| Main seizures | | Main seizures | ||
Line 36: | Line 42: | ||
| Interictal EEG | Usually theta pointu alternant | | Interictal EEG | Usually theta pointu alternant | ||
| Source: The Epilepsies: Seizures, Syndromes and Management. Panayiotopoulos CP. Oxfordshire (UK): [[http:// | | Source: The Epilepsies: Seizures, Syndromes and Management. Panayiotopoulos CP. Oxfordshire (UK): [[http:// | ||
+ | |||
+ | * [[content: | ||
===== Prognosis ===== | ===== Prognosis ===== | ||
* Seizures remit between 1 and 6 months from onset, majority during the first 6 weeks[(: | * Seizures remit between 1 and 6 months from onset, majority during the first 6 weeks[(: | ||
* 10–14% may later develop other types of febrile (5%) or afebrile seizures including idiopathic generalised seizures. Rolandic seizures have also been reported. | * 10–14% may later develop other types of febrile (5%) or afebrile seizures including idiopathic generalised seizures. Rolandic seizures have also been reported. | ||
* Although an exception deaths during neonatal seizures have also been reported | * Although an exception deaths during neonatal seizures have also been reported | ||
- | * Long term follow up studies in families have reported that none of the patients had seizures after 10 months of life[(: | + | * Long term follow up studies in families have reported that none of the patients had seizures after 10 months of life[(: |
- | * the prevalence of learning disabilities is reported to be around 2.5% which is not significantly different to that in the general population[(: | + | * the prevalence of learning disabilities is reported to be around 2.5% which is not significantly different to that in the general population[(: |
===== Management ===== | ===== Management ===== | ||
* seizures usually remit spontaneously without medication | * seizures usually remit spontaneously without medication | ||
Line 49: | Line 57: | ||
===== References ===== | ===== References ===== | ||
~~REFNOTES~~ | ~~REFNOTES~~ | ||
+ | {{tag> |