Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant

Trine Nielsen; Morten Krogh Herlin; Karen Markussen Linnet; Sándor Beniczky; Mette Sommerlund; Jakob Bie Granild-Jensen; Pernille A Gregersen

doi:10.1016/j.ejmg.2022.104444

Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant

Trine Nielsen, Morten Krogh Herlin, Karen Markussen Linnet, Sándor Beniczky, Mette Sommerlund, Jakob Bie Granild-Jensen, Pernille A Gregersen^*

^*Corresponding author for this work

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

5 Citations (Scopus)

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Abstract

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. It is characterized by hypermotor seizures occurring mainly during sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night. ADSHE is inherited in an autosomal dominant manner, and penetrance is estimated to be 70%. We describe two brothers with ADSHE with a previously unreported variant in CHRNA4, and the effect of medical treatment with carbamazepine. We highlight the relevance of genetic testing in patients with atypical and clustering episodes of nightmares, night terrors, or panic attacks, as these patients could be misdiagnosed, and instead be suffering from ADSHE, a potentially treatable condition.

Original language	English
Article number	104444
Journal	European Journal of Medical Genetics
Volume	65
Issue	3
Number of pages	5
ISSN	1769-7212
DOIs	https://doi.org/10.1016/j.ejmg.2022.104444
Publication status	Published - Mar 2022

Keywords

ADNFLE
ADSHE
CHRNA4
Nocturnal epilepsy
Sleep-related hypermotor epilepsy
Epilepsy/drug therapy
Receptors, Nicotinic/genetics
Sleep
Humans
Male
Arthrogryposis
Seizures

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1-s2.0-S1769721222000258-mainFinal published version, 1.66 MBLicence: CC BY

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title = "Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant",

abstract = "Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. It is characterized by hypermotor seizures occurring mainly during sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night. ADSHE is inherited in an autosomal dominant manner, and penetrance is estimated to be 70%. We describe two brothers with ADSHE with a previously unreported variant in CHRNA4, and the effect of medical treatment with carbamazepine. We highlight the relevance of genetic testing in patients with atypical and clustering episodes of nightmares, night terrors, or panic attacks, as these patients could be misdiagnosed, and instead be suffering from ADSHE, a potentially treatable condition.",

keywords = "ADNFLE, ADSHE, CHRNA4, Nocturnal epilepsy, Sleep-related hypermotor epilepsy, Epilepsy/drug therapy, Receptors, Nicotinic/genetics, Sleep, Humans, Male, Arthrogryposis, Seizures",

author = "Trine Nielsen and Herlin, {Morten Krogh} and Linnet, {Karen Markussen} and S{\'a}ndor Beniczky and Mette Sommerlund and Granild-Jensen, {Jakob Bie} and Gregersen, {Pernille A}",

year = "2022",

month = mar,

doi = "10.1016/j.ejmg.2022.104444",

language = "English",

volume = "65",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson",

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Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant. / Nielsen, Trine; Herlin, Morten Krogh; Linnet, Karen Markussen et al.
In: European Journal of Medical Genetics, Vol. 65, No. 3, 104444, 03.2022.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant

AU - Nielsen, Trine

AU - Herlin, Morten Krogh

AU - Linnet, Karen Markussen

AU - Beniczky, Sándor

AU - Sommerlund, Mette

AU - Granild-Jensen, Jakob Bie

AU - Gregersen, Pernille A

PY - 2022/3

Y1 - 2022/3

N2 - Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. It is characterized by hypermotor seizures occurring mainly during sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night. ADSHE is inherited in an autosomal dominant manner, and penetrance is estimated to be 70%. We describe two brothers with ADSHE with a previously unreported variant in CHRNA4, and the effect of medical treatment with carbamazepine. We highlight the relevance of genetic testing in patients with atypical and clustering episodes of nightmares, night terrors, or panic attacks, as these patients could be misdiagnosed, and instead be suffering from ADSHE, a potentially treatable condition.

AB - Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. It is characterized by hypermotor seizures occurring mainly during sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night. ADSHE is inherited in an autosomal dominant manner, and penetrance is estimated to be 70%. We describe two brothers with ADSHE with a previously unreported variant in CHRNA4, and the effect of medical treatment with carbamazepine. We highlight the relevance of genetic testing in patients with atypical and clustering episodes of nightmares, night terrors, or panic attacks, as these patients could be misdiagnosed, and instead be suffering from ADSHE, a potentially treatable condition.

KW - ADNFLE

KW - ADSHE

KW - CHRNA4

KW - Nocturnal epilepsy

KW - Sleep-related hypermotor epilepsy

KW - Epilepsy/drug therapy

KW - Receptors, Nicotinic/genetics

KW - Sleep

KW - Humans

KW - Male

KW - Arthrogryposis

KW - Seizures

U2 - 10.1016/j.ejmg.2022.104444

DO - 10.1016/j.ejmg.2022.104444

M3 - Journal article

C2 - 35093606

SN - 1769-7212

VL - 65

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 3

M1 - 104444

ER -

Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant

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Keywords

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