U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal dominant nocturnal frontal lobe epilepsy 2(ENFL2)

MedGen UID:
351053
Concept ID:
C1864125
Disease or Syndrome
Synonym: Epilepsy, nocturnal frontal lobe, type 2
 
Monarch Initiative: MONDO:0011297
OMIM®: 603204

Disease characteristics

Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) is a seizure disorder characterized by clusters of nocturnal motor seizures that are often stereotyped and brief (<2 minutes). They vary from simple arousals from sleep to dramatic, often hyperkinetic events with tonic or dystonic features. Affected individuals may experience an aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Age of onset ranges from infancy to adulthood. About 80% of individuals develop ADSHE 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 comorbidities, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADSHE is lifelong but not progressive. As an individual reaches middle age, seizures 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-2 (ENFL2) 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 (summary by Derry et al., 2008). For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513).  http://www.omim.org/entry/603204
From MedlinePlus Genetics
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.

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 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.

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.

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.  https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Status epilepticus
MedGen UID:
11586
Concept ID:
C0038220
Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

Professional guidelines

PubMed

Roberts R
Curr Opin Neurol 1998 Apr;11(2):135-9. doi: 10.1097/00019052-199804000-00010. PMID: 9551294

Recent clinical studies

Etiology

Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R
Neurology 2015 Apr 14;84(15):1520-8. Epub 2015 Mar 13 doi: 10.1212/WNL.0000000000001471. PMID: 25770198Free PMC Article
Helbig I, Lowenstein DH
Curr Opin Neurol 2013 Apr;26(2):179-85. doi: 10.1097/WCO.0b013e32835ee6ff. PMID: 23429546Free PMC Article
Sohn YH, Lee PH
Handb Clin Neurol 2011;100:367-73. doi: 10.1016/B978-0-444-52014-2.00028-8. PMID: 21496595
Hirose S, Mitsudome A, Okada M, Kaneko S; Epilepsy Genetic Study Group, Japan
Epilepsia 2005;46 Suppl 1:38-43. doi: 10.1111/j.0013-9580.2005.461011.x. PMID: 15816978
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

Diagnosis

Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R
Neurology 2015 Apr 14;84(15):1520-8. Epub 2015 Mar 13 doi: 10.1212/WNL.0000000000001471. PMID: 25770198Free PMC Article
Helbig I, Lowenstein DH
Curr Opin Neurol 2013 Apr;26(2):179-85. doi: 10.1097/WCO.0b013e32835ee6ff. PMID: 23429546Free PMC Article
Lu Y, Wang X
Neurol Res 2009 Mar;31(2):135-43. doi: 10.1179/174313209X393942. PMID: 19298753
Díaz-Otero F, Quesada M, Morales-Corraliza J, Martínez-Parra C, Gómez-Garre P, Serratosa JM
Epilepsia 2008 Mar;49(3):516-20. Epub 2007 Sep 26 doi: 10.1111/j.1528-1167.2007.01328.x. PMID: 17900292
di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F
Eur J Paediatr Neurol 2005;9(2):59-66. doi: 10.1016/j.ejpn.2004.12.006. PMID: 15843070

Therapy

O'Reilly C, Chapotot F, Pittau F, Mella N, Picard F
J Sleep Res 2019 Aug;28(4):e12800. Epub 2018 Dec 18 doi: 10.1111/jsr.12800. PMID: 30565327
Mullen SA, Carney PW, Roten A, Ching M, Lightfoot PA, Churilov L, Nair U, Li M, Berkovic SF, Petrou S, Scheffer IE
Neurology 2018 Jan 2;90(1):e67-e72. Epub 2017 Dec 1 doi: 10.1212/WNL.0000000000004769. PMID: 29196578
Ghasemi M, Hadipour-Niktarash A
Rev Neurosci 2015;26(2):199-223. doi: 10.1515/revneuro-2014-0044. PMID: 25565544
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
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113

Prognosis

Cadieux-Dion M, Meneghini S, Villa C, Toffa DH, Wickstrom R, Bouthillier A, Sandvik U, Gustavsson B, Mohamed I, Cossette P, Combi R, Becchetti A, Nguyen DK
Can J Neurol Sci 2020 Nov;47(6):800-809. Epub 2020 Jun 15 doi: 10.1017/cjn.2020.126. PMID: 32536355
Steinlein OK, Hoda JC, Bertrand S, Bertrand D
Seizure 2012 Mar;21(2):118-23. Epub 2011 Oct 28 doi: 10.1016/j.seizure.2011.10.003. PMID: 22036597
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
Duncan J
Curr Opin Neurol 2009 Apr;22(2):179-84. doi: 10.1097/WCO.0b013e328328f260. PMID: 19300096
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113

Clinical prediction guides

Cadieux-Dion M, Meneghini S, Villa C, Toffa DH, Wickstrom R, Bouthillier A, Sandvik U, Gustavsson B, Mohamed I, Cossette P, Combi R, Becchetti A, Nguyen DK
Can J Neurol Sci 2020 Nov;47(6):800-809. Epub 2020 Jun 15 doi: 10.1017/cjn.2020.126. PMID: 32536355
Duncan J
Curr Opin Neurol 2009 Apr;22(2):179-84. doi: 10.1097/WCO.0b013e328328f260. PMID: 19300096
Mann EO, Mody I
Curr Opin Neurol 2008 Apr;21(2):155-60. doi: 10.1097/WCO.0b013e3282f52f5f. PMID: 18317273
Sáenz A, Galán J, Caloustian C, Lorenzo F, Márquez C, Rodríguez N, Jiménez MD, Poza JJ, Cobo AM, Grid D, Prud'homme JF, López de Munain A
Arch Neurol 1999 Aug;56(8):1004-9. doi: 10.1001/archneur.56.8.1004. PMID: 10448807
Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC
Am J Hum Genet 1998 Oct;63(4):1108-16. doi: 10.1086/302047. PMID: 9758605Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...