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Autosomal dominant nocturnal frontal lobe epilepsy(ADNFLE)

MedGen UID:
777188
Concept ID:
C3696898
Disease or Syndrome
Synonym: ADNFLE
SNOMED CT: ADNFLE - Autosomal dominant nocturnal frontal lobe epilepsy (698021005); Autosomal dominant nocturnal frontal lobe epilepsy (698021005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
 
Related genes: KCNT1, CHRNB2, CHRNA4, CHRNA2
 
Monarch Initiative: MONDO:0020300
Orphanet: ORPHA98784

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

Professional guidelines

PubMed

Ferraro TN, Dlugos DJ, Buono RJ
Expert Rev Neurother 2006 Dec;6(12):1789-800. doi: 10.1586/14737175.6.12.1789. PMID: 17181426
Hirsch E, de Saint-Martin A, Arzimanoglou A
Epilepsia 2000;41 Suppl 5:S13-17. doi: 10.1111/j.1528-1157.2000.tb06042.x. PMID: 11045435
Roberts R
Curr Opin Neurol 1998 Apr;11(2):135-9. doi: 10.1097/00019052-199804000-00010. PMID: 9551294

Recent clinical studies

Etiology

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
Ferraro TN, Dlugos DJ, Buono RJ
Expert Rev Neurother 2006 Dec;6(12):1789-800. doi: 10.1586/14737175.6.12.1789. PMID: 17181426
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

Helbig I, Lowenstein DH
Curr Opin Neurol 2013 Apr;26(2):179-85. doi: 10.1097/WCO.0b013e32835ee6ff. PMID: 23429546Free PMC Article
Ferini-Strambi L, Sansoni V, Combi R
Neurologist 2012 Nov;18(6):343-9. doi: 10.1097/NRL.0b013e31826a99b8. PMID: 23114665
Ferraro TN, Dlugos DJ, Buono RJ
Expert Rev Neurother 2006 Dec;6(12):1789-800. doi: 10.1586/14737175.6.12.1789. PMID: 17181426
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
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

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
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
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
Steinlein OK
Curr Drug Targets CNS Neurol Disord 2002 Aug;1(4):443-8. doi: 10.2174/1568007023339193. PMID: 12769616
Hirsch E, de Saint-Martin A, Arzimanoglou A
Epilepsia 2000;41 Suppl 5:S13-17. doi: 10.1111/j.1528-1157.2000.tb06042.x. PMID: 11045435

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
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
Andermann F, Kobayashi E, Andermann E
Epilepsia 2005;46 Suppl 10:61-7. doi: 10.1111/j.1528-1167.2005.00361.x. PMID: 16359475
Hirsch E, de Saint-Martin A, Arzimanoglou A
Epilepsia 2000;41 Suppl 5:S13-17. doi: 10.1111/j.1528-1157.2000.tb06042.x. PMID: 11045435

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
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
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

Recent systematic reviews

Fox J, Thodeson DM, Dolce AM
J Child Neurol 2021 Apr;36(5):371-377. Epub 2020 Dec 7 doi: 10.1177/0883073820974851. PMID: 33284031

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