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Epilepsy, nocturnal frontal lobe, 5(ENFL5)

MedGen UID:
767220
Concept ID:
C3554306
Disease or Syndrome
Synonyms: CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS; ENFL5
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KCNT1 (9q34.3)
 
Monarch Initiative: MONDO:0014002
OMIM®: 615005

Definition

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent. [from GeneReviews]

Additional description

From OMIM
Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012). For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513).  http://www.omim.org/entry/615005

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Personality disorder
MedGen UID:
45827
Concept ID:
C0031212
Mental or Behavioral Dysfunction
A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.
Psychosis
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A mental disorder characterized by personality change, impaired functioning, and loss of touch with reality.
Status epilepticus
MedGen UID:
11586
Concept ID:
C0038220
Disease or Syndrome
A life-threatening situation in which the brain is in a continuous state of seizure.
Behavioral abnormality
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Diminished mental function.
Focal-onset seizure
MedGen UID:
199670
Concept ID:
C0751495
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.

Recent clinical studies

Etiology

Wang MY, Liu XZ, Wang J, Wu LW
Epilepsy Res 2014 Dec;108(10):1927-31. Epub 2014 Sep 16 doi: 10.1016/j.eplepsyres.2014.08.024. PMID: 25282705
Liu H, Lu C, Li Z, Zhou S, Li X, Ji L, Lu Q, Lv R, Wu L, Ma X
Epilepsy Res 2011 Jun;95(1-2):94-9. Epub 2011 Apr 16 doi: 10.1016/j.eplepsyres.2011.03.002. PMID: 21497487
Bisulli F, Vignatelli L, Naldi I, Licchetta L, Provini F, Plazzi G, Di Vito L, Ferioli S, Montagna P, Tinuper P
Epilepsia 2010 Sep;51(9):1852-60. doi: 10.1111/j.1528-1167.2010.02581.x. PMID: 20477848
Raju GP, Sarco DP, Poduri A, Riviello JJ, Bergin AM, Takeoka M
Pediatr Neurol 2007 Nov;37(5):345-9. doi: 10.1016/j.pediatrneurol.2007.06.013. PMID: 17950420
Nobili L, Francione S, Mai R, Cardinale F, Castana L, Tassi L, Sartori I, Didato G, Citterio A, Colombo N, Galli C, Lo Russo G, Cossu M
Brain 2007 Feb;130(Pt 2):561-73. Epub 2006 Nov 22 doi: 10.1093/brain/awl322. PMID: 17124189

Diagnosis

Bisulli F, Vignatelli L, Naldi I, Pittau F, Provini F, Plazzi G, Stipa C, Leta C, Montagna P, Tinuper P
Sleep Med 2012 Jan;13(1):81-7. Epub 2011 Dec 3 doi: 10.1016/j.sleep.2011.09.003. PMID: 22137114
Bisulli F, Vignatelli L, Naldi I, Licchetta L, Provini F, Plazzi G, Di Vito L, Ferioli S, Montagna P, Tinuper P
Epilepsia 2010 Sep;51(9):1852-60. doi: 10.1111/j.1528-1167.2010.02581.x. PMID: 20477848
Manni R, Terzaghi M, Repetto A
Epilepsia 2008 Sep;49(9):1581-5. Epub 2008 Apr 10 doi: 10.1111/j.1528-1167.2008.01602.x. PMID: 18410366
Raju GP, Sarco DP, Poduri A, Riviello JJ, Bergin AM, Takeoka M
Pediatr Neurol 2007 Nov;37(5):345-9. doi: 10.1016/j.pediatrneurol.2007.06.013. PMID: 17950420
Nobili L, Sartori I, Terzaghi M, Stefano F, Mai R, Tassi L, Parrino L, Cossu M, Lo Russo G
Sleep 2006 May;29(5):701-4. doi: 10.1093/sleep/29.5.701. PMID: 16774161

Therapy

Samarasekera SR, Berkovic SF, Scheffer IE
J Sleep Res 2018 Oct;27(5):e12669. Epub 2018 Feb 25 doi: 10.1111/jsr.12669. PMID: 29479765
Miyajima T, Kumada T, Saito K, Fujii T
Brain Dev 2013 Feb;35(2):155-7. Epub 2012 Aug 9 doi: 10.1016/j.braindev.2012.07.012. PMID: 22883468
Liu H, Lu C, Li Z, Zhou S, Li X, Ji L, Lu Q, Lv R, Wu L, Ma X
Epilepsy Res 2011 Jun;95(1-2):94-9. Epub 2011 Apr 16 doi: 10.1016/j.eplepsyres.2011.03.002. PMID: 21497487
Di Resta C, Ambrosi P, Curia G, Becchetti A
Eur J Pharmacol 2010 Sep 15;643(1):13-20. Epub 2010 Jun 16 doi: 10.1016/j.ejphar.2010.05.063. PMID: 20561518
Raju GP, Sarco DP, Poduri A, Riviello JJ, Bergin AM, Takeoka M
Pediatr Neurol 2007 Nov;37(5):345-9. doi: 10.1016/j.pediatrneurol.2007.06.013. PMID: 17950420

Prognosis

Carreño M, Garcia-Alvarez D, Maestro I, Fernández S, Donaire A, Boget T, Rumià J, Pintor L, Setoain X
Epileptic Disord 2010 Jun;12(2):155-8. Epub 2010 May 18 doi: 10.1684/epd.2010.0307. PMID: 20478764
Manni R, Terzaghi M, Repetto A
Epilepsia 2008 Sep;49(9):1581-5. Epub 2008 Apr 10 doi: 10.1111/j.1528-1167.2008.01602.x. PMID: 18410366
Raju GP, Sarco DP, Poduri A, Riviello JJ, Bergin AM, Takeoka M
Pediatr Neurol 2007 Nov;37(5):345-9. doi: 10.1016/j.pediatrneurol.2007.06.013. PMID: 17950420
Nobili L, Francione S, Mai R, Cardinale F, Castana L, Tassi L, Sartori I, Didato G, Citterio A, Colombo N, Galli C, Lo Russo G, Cossu M
Brain 2007 Feb;130(Pt 2):561-73. Epub 2006 Nov 22 doi: 10.1093/brain/awl322. PMID: 17124189
Oldani A, Manconi M, Zucconi M, Martinelli C, Ferini-Strambi L
Seizure 2006 Dec;15(8):649-52. Epub 2006 Sep 14 doi: 10.1016/j.seizure.2006.07.002. PMID: 16973383

Clinical prediction guides

Wang MY, Liu XZ, Wang J, Wu LW
Epilepsy Res 2014 Dec;108(10):1927-31. Epub 2014 Sep 16 doi: 10.1016/j.eplepsyres.2014.08.024. PMID: 25282705
Liu H, Lu C, Li Z, Zhou S, Li X, Ji L, Lu Q, Lv R, Wu L, Ma X
Epilepsy Res 2011 Jun;95(1-2):94-9. Epub 2011 Apr 16 doi: 10.1016/j.eplepsyres.2011.03.002. PMID: 21497487
Di Resta C, Ambrosi P, Curia G, Becchetti A
Eur J Pharmacol 2010 Sep 15;643(1):13-20. Epub 2010 Jun 16 doi: 10.1016/j.ejphar.2010.05.063. PMID: 20561518
Bisulli F, Vignatelli L, Naldi I, Licchetta L, Provini F, Plazzi G, Di Vito L, Ferioli S, Montagna P, Tinuper P
Epilepsia 2010 Sep;51(9):1852-60. doi: 10.1111/j.1528-1167.2010.02581.x. PMID: 20477848
Nobili L, Francione S, Mai R, Cardinale F, Castana L, Tassi L, Sartori I, Didato G, Citterio A, Colombo N, Galli C, Lo Russo G, Cossu M
Brain 2007 Feb;130(Pt 2):561-73. Epub 2006 Nov 22 doi: 10.1093/brain/awl322. PMID: 17124189

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