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content:benign_familial_neonatal_epilepsy [2020/02/15 16:35] – [Electroencephalography] icnacontent:benign_familial_neonatal_epilepsy [2022/04/30 11:31] – administrator@icnapedia.org
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 ====== 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.
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 ===== 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, ocular symptoms, other autonomic features, motor automatisms, chewing and focal or generalised clonic movements[(:cite:8250533>{{pubmed>long:8250533}})][(:cite:8327138>{{pubmed>long:8327138}})][(:cite:1859177>{{pubmed>long:1859177}})]+  * Seizures usually start with tonic motor activity and posturing with apnoea followed by vocalisations, ocular symptoms, other autonomic features, motor automatisms, chewing and focal or generalised clonic movements[(:cite:8250533>{{pmid>long:8250533}})][(:cite:8327138>{{pmid>long:8327138}})][(:cite:1859177>{{pmid>long:1859177}})]
   * 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[(:cite:panayiotopoulos2005)]   * Pure clonic or focal seizures are rarely seen[(:cite:panayiotopoulos2005)]
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 ===== Electroencephalography ===== ===== Electroencephalography =====
-[{{ :content:theta-point-alternans.jpg?400|theta pointu alternant(source: Plouin 1992[(:cite:plouin1992)])}}] +<WRAP right> 
-  * The inter-ictal EEG may be normal, discontinuous, have focal or multifocal abnormalities or have a [[theta pointu alternant pattern]][(:cite:6660252>{{pubmed>long:6660252}})+<figure fig1> 
 +{{ :content:theta-point-alternans.jpg?400|theta pointu alternant}} 
 +<caption>theta pointu alternant (//source: Plouin et al(1992)//[(:cite:6660252)]</caption> 
 +</figure> 
 +</WRAP> 
 + 
 +  * The inter-ictal EEG may be normal, discontinuous, have focal or multifocal abnormalities or have a [[theta pointu alternant pattern]]
   * 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, chewing and focal or generalised clonic activity.76,77   * followed by bilateral and often asymmetrical discharges of spikes and sharp waves with a duration of 1–2 min, coinciding with the vocalisations, chewing and focal or generalised clonic activity.76,77
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 ===== 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)[(:cite:12383278>{{pubmed>long:12383278}})] have suggested that BFNC cannot be produced by KCNQ-channel dysfunction alone but by reciprocal action between impaired KCNQ channel and other conditions which results in either an increase in excitation or decrease in inhibition.+  * Okada et al(2002)[(:cite:12383278>{{pmid>long:12383278}})] have suggested that BFNC cannot be produced by KCNQ-channel dysfunction alone but by reciprocal action between impaired KCNQ channel and other conditions which results in either an increase in excitation or decrease in inhibition.
   * Potassium channels shown differential expression at different stages of maturation which might be another explanation for the pathogenesis of BFNS[(:cite:vidaurre2004>Vidaurre JA, Ballaban-Gil KR, Plouin P, Moshe SL. Benign neonatal familial seizures. In: Gilman S, editor. Medlink Neurology. San Diego SA: Arbor Publishing Corp; 2004)]   * Potassium channels shown differential expression at different stages of maturation which might be another explanation for the pathogenesis of BFNS[(:cite:vidaurre2004>Vidaurre JA, Ballaban-Gil KR, Plouin P, Moshe SL. Benign neonatal familial seizures. In: Gilman S, editor. Medlink Neurology. San Diego SA: Arbor Publishing Corp; 2004)]
 ===== Differential diagnosis ===== ===== Differential diagnosis =====
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   * 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[(:cite:3508699>{{pubmed>long:3508699}})] while in others have reported that a small percentage of patients continued to have seizures in adult life[(:cite:7350900>{{pubmed>long:7350900}})][(:cite:6660252>{{pubmed>long:6660252}})] +  * Long term follow up studies in families have reported that none of the patients had seizures after 10 months of life[(:cite:3508699>{{pmid>long:3508699}})] while in others have reported that a small percentage of patients continued to have seizures in adult life[(:cite:7350900>{{pmid>long:7350900}})][(:cite:6660252>{{pmid>long:6660252}})] 
-  * the prevalence of learning disabilities is reported to be around 2.5% which is not significantly different to that in the general population[(:cite:6476007>{{pubmed>short:6476007}})]+  * the prevalence of learning disabilities is reported to be around 2.5% which is not significantly different to that in the general population[(:cite:6476007>{{pmid>short:6476007}})]
 ===== Management ===== ===== Management =====
   * seizures usually remit spontaneously without medication   * seizures usually remit spontaneously without medication
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 ===== References ===== ===== References =====
 ~~REFNOTES~~ ~~REFNOTES~~
 +{{tag>neonatal_seizures}}
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