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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
Scheffer IE
Acta Neurol Scand Suppl 2005;181:47-51. doi: 10.1111/j.1600-0404.2005.00509.x. PMID: 16238709
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

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
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
Gil-Nagel A
Neurotox Res 2003;5(1-2):45-52. doi: 10.1007/BF03033372. PMID: 12832224
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
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
Scheffer IE
Epilepsia 2000 Aug;41(8):1059-60. doi: 10.1111/j.1528-1157.2000.tb00298.x. PMID: 10961640
Berkovic SF, Scheffer IE
Brain Dev 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. PMID: 9071484

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
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
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

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
Duncan J
Curr Opin Neurol 2009 Apr;22(2):179-84. doi: 10.1097/WCO.0b013e328328f260. PMID: 19300096
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
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N
Epilepsia 2015 Sep;56(9):e121-8. Epub 2015 Jul 3 doi: 10.1111/epi.13072. PMID: 26140313
Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM
Epilepsia 2015 Sep;56(9):e114-20. Epub 2015 Jun 30 doi: 10.1111/epi.13071. PMID: 26122718Free PMC Article
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

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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