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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
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
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

Nichols WA, Henderson BJ, Marotta CB, Yu CY, Richards C, Dougherty DA, Lester HA, Cohen BN
PLoS One 2016;11(6):e0158032. Epub 2016 Jun 23 doi: 10.1371/journal.pone.0158032. PMID: 27336596Free PMC Article
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
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
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
Qu J, Zhang Y, Yang ZQ, Mao XY, Zhou BT, Yin JY, He H, Li XP, Long HY, Lv N, Xu XJ, Xiao B, Zhang Y, Tang Q, Hu DL, Zhou HH, Liu ZQ
CNS Neurosci Ther 2014 Feb;20(2):140-6. Epub 2013 Nov 27 doi: 10.1111/cns.12169. PMID: 24279416Free PMC Article
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
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
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

Kurahashi H, Wang JW, Ishii A, Kojima T, Wakai S, Kizawa T, Fujimoto Y, Kikkawa K, Yoshimura K, Inoue T, Yasumoto S, Ogawa A, Kaneko S, Hirose S
Neurology 2009 Oct 13;73(15):1214-7. doi: 10.1212/WNL.0b013e3181bc0158. PMID: 19822871
Delgado-Escueta AV, Bourgeois BF
Epilepsia 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. PMID: 19087113
Scheffer IE
Acta Neurol Scand Suppl 2005;181:47-51. doi: 10.1111/j.1600-0404.2005.00509.x. PMID: 16238709
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article
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

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
Bertrand D, Picard F, Le Hellard S, Weiland S, Favre I, Phillips H, Bertrand S, Berkovic SF, Malafosse A, Mulley J
Epilepsia 2002;43 Suppl 5:112-22. doi: 10.1046/j.1528-1157.43.s.5.16.x. PMID: 12121305
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article
Neubauer BA, Fiedler B, Himmelein B, Kämpfer F, Lässker U, Schwabe G, Spanier I, Tams D, Bretscher C, Moldenhauer K, Kurlemann G, Weise S, Tedroff K, Eeg-Olofsson O, Wadelius C, Stephani U
Neurology 1998 Dec;51(6):1608-12. doi: 10.1212/wnl.51.6.1608. PMID: 9855510

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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