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Epilepsy, nocturnal frontal lobe, type 1(ENFL1)

MedGen UID:
324932
Concept ID:
C1838049
Disease or Syndrome
Synonyms: Autosomal dominant nocturnal frontal lobe epilepsy type 1; CHRNA4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant; ENFL1; EPILEPSY, NOCTURNAL FRONTAL LOBE, 1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: CHRNA4
Cytogenetic location: 20q13.33
OMIM®: 600513

Disease characteristics

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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Hirokazu Kurahashi  |  Shinichi Hirose   view full author information

Additional descriptions

From OMIM
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al., 1994, 1995). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy Nocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (603204), which maps to chromosome 15q24; ENFL3 (605375), caused by mutation in the CHRNB2 gene (118507) on chromosome 1q21; ENFL4 (610353), caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21; and ENFL5 (615005), caused by mutation in the KCNT1 gene (608167) on chromosome 9q34.  http://www.omim.org/entry/600513
From GHR
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day. The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks. In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers. The seizures associated with ADNFLE can begin anytime from infancy to mid-adulthood, but most begin in childhood. The episodes tend to become milder and less frequent with age. In most affected people, the seizures can be effectively controlled with medication. Most people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.  http://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy

Clinical features

Focal seizures
MedGen UID:
335891
Concept ID:
C1843141
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 21497487
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. [Epub ahead of print] PMID: 17124189
Lerche H, Jurkat-Rott K, Lehmann-Horn F
Am J Med Genet 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582. PMID: 11579435
Jobst BC, Siegel AM, Thadani VM, Roberts DW, Rhodes HC, Williamson PD
Epilepsia 2000 Sep;41(9):1139-52. PMID: 10999553
Zucconi M, Oldani A, Ferini-Strambi L, Bizzozero D, Smirne S
J Clin Neurophysiol 1997 Nov;14(6):513-22. PMID: 9458058

Diagnosis

Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
Ryvlin P
Epileptic Disord 2006 Aug;8 Suppl 2:S37-56. PMID: 17012071
Arroyo S, Santamaria J, Setoain JF, Lomeña F, Bargallo N, Tolosa E
Epilepsy Res 2001 Jan;43(1):1-9. PMID: 11137385
Jobst BC, Siegel AM, Thadani VM, Roberts DW, Rhodes HC, Williamson PD
Epilepsia 2000 Sep;41(9):1139-52. PMID: 10999553

Therapy

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20561518
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
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. [Epub ahead of print] PMID: 17124189
Armijo JA, Shushtarian M, Valdizan EM, Cuadrado A, de las Cuevas I, Adín J
Curr Pharm Des 2005;11(15):1975-2003. PMID: 15974971

Prognosis

Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
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. [Epub ahead of print] PMID: 17124189
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E
Nat Genet 2001 May;28(1):46-8. doi: 10.1038/88254. PMID: 11326274
Jobst BC, Siegel AM, Thadani VM, Roberts DW, Rhodes HC, Williamson PD
Epilepsia 2000 Sep;41(9):1139-52. PMID: 10999553

Clinical prediction guides

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20561518
Son CD, Moss FJ, Cohen BN, Lester HA
Mol Pharmacol 2009 May;75(5):1137-48. Epub 2009 Feb 23 doi: 10.1124/mol.108.054494. [Epub ahead of print] PMID: 19237585Free PMC Article
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. [Epub ahead of print] PMID: 17124189
Jobst BC, Siegel AM, Thadani VM, Roberts DW, Rhodes HC, Williamson PD
Epilepsia 2000 Sep;41(9):1139-52. PMID: 10999553

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