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Autosomal dominant nocturnal frontal lobe epilepsy 3(ENFL3)

MedGen UID:
344263
Concept ID:
C1854335
Disease or Syndrome
Synonyms: CHRNB2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant; Epilepsy, nocturnal frontal lobe, type 3
 
Gene (location): CHRNB2 (1q21.3)
 
Monarch Initiative: MONDO:0011545
OMIM®: 605375

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
Clustered attacks of epileptic episodes originating from the frontal lobe during sleep represent the main manifestation of autosomal dominant frontal lobe epilepsy (ENFL, ADNFLE) (summary by De Fusco et al., 2000). For a general phenotypic description of autosomal dominant nocturnal frontal lobe epilepsy, see 600513.  http://www.omim.org/entry/605375
From MedlinePlus Genetics
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.

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.

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

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
  • Abnormality of the nervous system

Recent clinical studies

Etiology

Sohn YH, Lee PH
Handb Clin Neurol 2011;100:367-73. doi: 10.1016/B978-0-444-52014-2.00028-8. PMID: 21496595
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
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF
Nat Genet 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. PMID: 7550350

Diagnosis

Ferini-Strambi L, Sansoni V, Combi R
Neurologist 2012 Nov;18(6):343-9. doi: 10.1097/NRL.0b013e31826a99b8. PMID: 23114665
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
Combi R, Dalprà L, Ferini-Strambi L, Tenchini ML
Ann Neurol 2005 Dec;58(6):899-904. doi: 10.1002/ana.20660. PMID: 16222669
Combi R, Dalprà L, Tenchini ML, Ferini-Strambi L
J Neurol 2004 Aug;251(8):923-34. doi: 10.1007/s00415-004-0541-x. PMID: 15316796

Therapy

Datta AN, Michoulas A, Guella I; EPGEN Study, Demos M
J Child Neurol 2019 Oct;34(12):728-734. Epub 2019 Jun 17 doi: 10.1177/0883073819854853. PMID: 31208268
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
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
Brodtkorb E, Picard F
Epilepsy Behav 2006 Nov;9(3):515-20. Epub 2006 Aug 22 doi: 10.1016/j.yebeh.2006.07.008. PMID: 16931165
Combi R, Dalprà L, Tenchini ML, Ferini-Strambi L
J Neurol 2004 Aug;251(8):923-34. doi: 10.1007/s00415-004-0541-x. PMID: 15316796

Prognosis

Datta AN, Michoulas A, Guella I; EPGEN Study, Demos M
J Child Neurol 2019 Oct;34(12):728-734. Epub 2019 Jun 17 doi: 10.1177/0883073819854853. PMID: 31208268
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
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article

Clinical prediction guides

Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
Fedi M, Berkovic SF, Scheffer IE, O'Keefe G, Marini C, Mulligan R, Gong S, Tochon-Danguy H, Reutens DC
Neurology 2008 Sep 9;71(11):795-8. Epub 2008 Aug 6 doi: 10.1212/01.wnl.0000316192.52731.77. PMID: 18685138
Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M
Epilepsia 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. PMID: 15329069
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

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