Polysomnography Report for a Boy with TBC1D24 Mutation

Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness and hypotonicity for about 45 minutes and neu...
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Autor*in:	Khatereh Khamenehpour [verfasserIn] Shabnam Jalilolghadr [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	Muscle Hypotonia Seizures Polysomnography

Übergeordnetes Werk:	In: Journal of Sleep Sciences - Tehran University of Medical Sciences, 2020, 2(2018), 3-4
Übergeordnetes Werk:	volume:2 ; year:2018 ; number:3-4

Links:	Link aufrufen Link aufrufen Journal toc Journal toc

Katalog-ID:	DOAJ051093774

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spelling	(DE-627)DOAJ051093774 (DE-599)DOAJ613c207b6f344d0b93e49235f1e0007a DE-627 ger DE-627 rakwb eng Khatereh Khamenehpour verfasserin aut Polysomnography Report for a Boy with TBC1D24 Mutation 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness and hypotonicity for about 45 minutes and neurodevelopmental delay was referred to a sleep laboratory for polysomnography to rule out narcolepsy. In genetic analysis, he had mutation in the TBC1D24 gene. This mutation was heterozygous in the pair, and family members were not affected. Conclusion: This report suggests that TBC1D24-related diseases should be considered in differential diagnosis of children with sleep attacks and seizure. Muscle Hypotonia Seizures Polysomnography Medicine R Shabnam Jalilolghadr verfasserin aut In Journal of Sleep Sciences Tehran University of Medical Sciences, 2020 2(2018), 3-4 (DE-627)1742335519 24762946 nnns volume:2 year:2018 number:3-4 https://doaj.org/article/613c207b6f344d0b93e49235f1e0007a kostenfrei https://jss.tums.ac.ir/index.php/jss/article/view/92 kostenfrei https://doaj.org/toc/2476-2938 Journal toc kostenfrei https://doaj.org/toc/2476-2946 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2018 3-4
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author	Khatereh Khamenehpour
spellingShingle	Khatereh Khamenehpour misc Muscle Hypotonia misc Seizures misc Polysomnography misc Medicine misc R Polysomnography Report for a Boy with TBC1D24 Mutation
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topic_title	Polysomnography Report for a Boy with TBC1D24 Mutation Muscle Hypotonia Seizures Polysomnography
topic	misc Muscle Hypotonia misc Seizures misc Polysomnography misc Medicine misc R
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title	Polysomnography Report for a Boy with TBC1D24 Mutation
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title_full	Polysomnography Report for a Boy with TBC1D24 Mutation
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author_browse	Khatereh Khamenehpour Shabnam Jalilolghadr
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author-letter	Khatereh Khamenehpour
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title_sort	polysomnography report for a boy with tbc1d24 mutation
title_auth	Polysomnography Report for a Boy with TBC1D24 Mutation
abstract	Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness and hypotonicity for about 45 minutes and neurodevelopmental delay was referred to a sleep laboratory for polysomnography to rule out narcolepsy. In genetic analysis, he had mutation in the TBC1D24 gene. This mutation was heterozygous in the pair, and family members were not affected. Conclusion: This report suggests that TBC1D24-related diseases should be considered in differential diagnosis of children with sleep attacks and seizure.
abstractGer	Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness and hypotonicity for about 45 minutes and neurodevelopmental delay was referred to a sleep laboratory for polysomnography to rule out narcolepsy. In genetic analysis, he had mutation in the TBC1D24 gene. This mutation was heterozygous in the pair, and family members were not affected. Conclusion: This report suggests that TBC1D24-related diseases should be considered in differential diagnosis of children with sleep attacks and seizure.
abstract_unstemmed	Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness and hypotonicity for about 45 minutes and neurodevelopmental delay was referred to a sleep laboratory for polysomnography to rule out narcolepsy. In genetic analysis, he had mutation in the TBC1D24 gene. This mutation was heterozygous in the pair, and family members were not affected. Conclusion: This report suggests that TBC1D24-related diseases should be considered in differential diagnosis of children with sleep attacks and seizure.
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title_short	Polysomnography Report for a Boy with TBC1D24 Mutation
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up_date	2024-07-03T18:23:32.982Z
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