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Autosomal dominant nocturnal frontal lobe epilepsy 5(ENFL5)

MedGen UID:
767220
Concept ID:
C3554306
Disease or Syndrome
Synonyms: CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS; Epilepsy, nocturnal frontal lobe, 5
 
Gene (location): KCNT1 (9q34.3)
 
Monarch Initiative: MONDO:0014002
OMIM®: 615005

Definition

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]

Additional description

From OMIM
Nocturnal frontal lobe epilepsy-5 (ENFL5) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012). For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513).  http://www.omim.org/entry/615005

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Personality disorder
MedGen UID:
45827
Concept ID:
C0031212
Mental or Behavioral Dysfunction
A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society.
Psychotic disorder
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Status epilepticus
MedGen UID:
11586
Concept ID:
C0038220
Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Focal-onset seizure
MedGen UID:
199670
Concept ID:
C0751495
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Recent clinical studies

Etiology

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
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
Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article
Gil-Nagel A
Neurotox Res 2003;5(1-2):45-52. doi: 10.1007/BF03033372. PMID: 12832224
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article

Diagnosis

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
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
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
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article
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

Therapy

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
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
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
Di Resta C, Ambrosi P, Curia G, Becchetti A
Eur J Pharmacol 2010 Sep 15;643(1):13-20. Epub 2010 Jun 16 doi: 10.1016/j.ejphar.2010.05.063. PMID: 20561518
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

Trivisano M, Terracciano A, Milano T, Cappelletti S, Pietrafusa N, Bertini ES, Vigevano F, Specchio N
Epilepsia 2015 May;56(5):e53-7. Epub 2015 Apr 3 doi: 10.1111/epi.12967. PMID: 25847220
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
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

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
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
Ortells MO, Barrantes GE
Br J Pharmacol 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. PMID: 12110613Free PMC Article
Ito M, Kobayashi K, Fujii T, Okuno T, Hirose S, Iwata H, Mitsudome A, Kaneko S
Epilepsia 2000 Jan;41(1):52-8. doi: 10.1111/j.1528-1157.2000.tb01505.x. PMID: 10643924
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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