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Epilepsy, nocturnal frontal lobe, type 4(ENFL4)

MedGen UID:
332082
Concept ID:
C1835905
Disease or Syndrome
Synonyms: Autosomal dominant nocturnal frontal lobe epilepsy type 4; CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant; ENFL4; EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
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): CHRNA2 (8p21.2)
OMIM®: 610353

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]
Authors:
Hirokazu Kurahashi  |  Shinichi Hirose   view full author information

Additional descriptions

From OMIM
Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (600513).  http://www.omim.org/entry/610353
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.  https://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy

Clinical features

Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.
Behavioral abnormality
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Conduct that is unusual for the individual.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Aricò I, Condurso R, Granata F, Nobili L, Bruni O, Silvestri R
Neurol Sci 2011 Apr;32(2):313-5. Epub 2010 Nov 19 doi: 10.1007/s10072-010-0448-5. [Epub ahead of print] PMID: 21088977
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
Steinlein O, Sander T, Stoodt J, Kretz R, Janz D, Propping P
Am J Med Genet 1997 Jul 25;74(4):445-9. PMID: 9259383

Diagnosis

Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G
Am J Hum Genet 2006 Aug;79(2):342-50. Epub 2006 Jun 26 doi: 10.1086/506459. [Epub ahead of print] PMID: 16826524Free PMC Article
Leppert MF, Singh N
Semin Neurol 1999;19(4):397-405. doi: 10.1055/s-2008-1040854. PMID: 10716662

Therapy

Aricò I, Condurso R, Granata F, Nobili L, Bruni O, Silvestri R
Neurol Sci 2011 Apr;32(2):313-5. Epub 2010 Nov 19 doi: 10.1007/s10072-010-0448-5. [Epub ahead of print] PMID: 21088977
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
Steinlein OK
Curr Drug Targets CNS Neurol Disord 2002 Aug;1(4):443-8. PMID: 12769616

Prognosis

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

Clinical prediction guides

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

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