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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)
 
Related genes: KCNT1, CHRNB2, CHRNA4, CHRNA2
 
Monarch Initiative: MONDO:0020300

Disease characteristics

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE 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 comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent. [from GeneReviews]
Authors:
Hirokazu Kurahashi  |  Shinichi Hirose   view full author information

Recent clinical studies

Etiology

Wood AG, Saling MM, Fedi M, Berkovic SF, Scheffer IE, Benjamin C, Reutens DC
Epilepsy Behav 2010 Apr;17(4):531-5. Epub 2010 Feb 26 doi: 10.1016/j.yebeh.2010.01.168. PMID: 20189461
Rozycka A, Skorupska E, Kostyrko A, Trzeciak WH
Epilepsia 2003 Aug;44(8):1113-7. doi: 10.1046/j.1528-1157.2003.07603.x. PMID: 12887446
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article
Duga S, Asselta R, Bonati MT, Malcovati M, Dalprà L, Oldani A, Zucconi M, Ferini-Strambi L, Tenchini ML
Epilepsia 2002 Apr;43(4):362-4. doi: 10.1046/j.1528-1157.2002.39001.x. PMID: 11952766
Zucconi M, Oldani A, Smirne S, Ferini-Strambi L
J Clin Neurophysiol 2000 Jan;17(1):77-86. doi: 10.1097/00004691-200001000-00008. PMID: 10709813

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
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
Cho YW, Yi SD, Lim JG, Kim DK, Motamedi GK
Epilepsy Behav 2008 Aug;13(2):361-5. Epub 2008 Jun 4 doi: 10.1016/j.yebeh.2008.04.017. PMID: 18534914
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
Klaassen A, Glykys J, Maguire J, Labarca C, Mody I, Boulter J
Proc Natl Acad Sci U S A 2006 Dec 12;103(50):19152-7. Epub 2006 Dec 4 doi: 10.1073/pnas.0608215103. PMID: 17146052Free PMC Article

Therapy

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
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
Rozycka A, Skorupska E, Kostyrko A, Trzeciak WH
Epilepsia 2003 Aug;44(8):1113-7. doi: 10.1046/j.1528-1157.2003.07603.x. PMID: 12887446
Zucconi M, Oldani A, Smirne S, Ferini-Strambi L
J Clin Neurophysiol 2000 Jan;17(1):77-86. doi: 10.1097/00004691-200001000-00008. PMID: 10709813

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
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
Sone D, Sugawara T, Sakakibara E, Tomioka Y, Taniguchi G, Murata Y, Watanabe M, Kaneko S
Epilepsy Behav 2012 Oct;25(2):192-5. Epub 2012 Sep 29 doi: 10.1016/j.yebeh.2012.07.027. PMID: 23032131
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article
Nakken KO, Magnusson A, Steinlein OK
Epilepsia 1999 Jan;40(1):88-92. doi: 10.1111/j.1528-1157.1999.tb01993.x. PMID: 9924907

Clinical prediction guides

Rozycka A, Dorszewska J, Steinborn B, Kempisty B, Lianeri M, Wisniewska K, Jagodzinski PP
Folia Neuropathol 2013;51(1):65-75. doi: 10.5114/fn.2013.34198. PMID: 23553139
Son CD, Moss FJ, Cohen BN, Lester HA
Mol Pharmacol 2009 May;75(5):1137-48. Epub 2009 Feb 23 doi: 10.1124/mol.108.054494. PMID: 19237585Free PMC Article
El Helou J, Navarro V, Depienne C, Fedirko E, LeGuern E, Baulac M, An-Gourfinkel I, Adam C
Clin Neurophysiol 2008 Oct;119(10):2201-4. Epub 2008 Aug 31 doi: 10.1016/j.clinph.2008.07.212. PMID: 18762450
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
Mann EO, Mody I
Curr Opin Neurol 2008 Apr;21(2):155-60. doi: 10.1097/WCO.0b013e3282f52f5f. PMID: 18317273

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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