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2025-04-05T22:21:11Z

CSV import

← Older revision		Revision as of 22:21, 5 April 2025
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			{{SI}}
			{{Infobox medical condition
			\| name = Autosomal dominant partial epilepsy with auditory features
			\| image = [[File:Autosomal_dominant_-_en.svg\|200px]]
			\| caption = Autosomal dominant pattern
			\| field = [[Neurology]]
			\| symptoms = [[Seizures]], [[auditory hallucinations]], [[aphasia]]
			\| onset = Childhood to early adulthood
			\| duration = Lifelong
			\| causes = [[Genetic mutation]]
			\| risks = Family history of epilepsy
			\| diagnosis = [[Electroencephalogram\|EEG]], [[genetic testing]]
			\| differential = [[Temporal lobe epilepsy]], [[focal epilepsy]]
			\| treatment = [[Anticonvulsant]] medications
			\| prognosis = Generally good with treatment
			\| frequency = Rare
			}}
	== '''Alternate names''' ==		== '''Alternate names''' ==
	ADLTE; ADPEAF; [[Autosomal dominant]] lateral [[temporal lobe epilepsy]]; ETL1		ADLTE; ADPEAF; [[Autosomal dominant]] lateral [[temporal lobe epilepsy]]; ETL1

	== '''Definition''' ==		== '''Definition''' ==
	Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of [[epilepsy]], a condition that is characterized by recurrent [[seizures]].		Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of [[epilepsy]], a condition that is characterized by recurrent [[seizures]].

	== '''Epidemiology''' ==		== '''Epidemiology''' ==
	This condition appears to be uncommon, although its prevalence is unknown.		This condition appears to be uncommon, although its prevalence is unknown.

	== '''Cause''' ==		== '''Cause''' ==
	* ADPEAF is caused by changes (mutations) in the '''LGI1 or RELN gene'''.		* ADPEAF is caused by changes (mutations) in the '''LGI1 or RELN gene'''.
	* This gene provides instructions for making a''' protein called Lgi1 or epitempin''', which is found primarily in nerve cells ([[neurons]]) in the brain.		* This gene provides instructions for making a''' protein called Lgi1 or epitempin''', which is found primarily in nerve cells ([[neurons]]) in the brain.
	* Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain.		* Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain.

	== '''Gene mutations''' ==		== '''Gene mutations''' ==
	* Mutations in the LGI1 gene likely '''disrupt the function of epitempin'''.		* Mutations in the LGI1 gene likely '''disrupt the function of epitempin'''.
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	* In the remaining families, the cause of the condition is unknown.		* In the remaining families, the cause of the condition is unknown.
	* Researchers are searching for other genetic changes that may underlie the condition.		* Researchers are searching for other genetic changes that may underlie the condition.

	== '''Inheritance''' ==		== '''Inheritance''' ==
	~~[[File:Autosomal dominant - en.svg\|thumb\|right\|Autosomal dominant pattern, a 50/50 chance.]]~~
	This condition is inherited in an [[autosomal dominant]] manner.		This condition is inherited in an [[autosomal dominant]] manner.

	== '''Onset''' ==		== '''Onset''' ==
	Signs and symptoms of the condition generally begin in adolescence or early adulthood.		Signs and symptoms of the condition generally begin in adolescence or early adulthood.

	== '''Signs and symptoms''' ==		== '''Signs and symptoms''' ==
	* In ADPEAF, specifically, most affected people experience secondary generalized [[seizures]] and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive [[aphasia]] (inability to understand written or spoken words).		* In ADPEAF, specifically, most affected people experience secondary generalized [[seizures]] and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive [[aphasia]] (inability to understand written or spoken words).
	* Less commonly, seizures may cause visual [[hallucinations]], a disturbance in the sense of smell, [[vertigo]], or other symptoms affecting the senses.		* Less commonly, seizures may cause visual [[hallucinations]], a disturbance in the sense of smell, [[vertigo]], or other symptoms affecting the senses.

	== '''Diagnosis''' ==		== '''Diagnosis''' ==
	* The clinical diagnosis of ADEAF is established with characteristic clinical features, normal brain imaging ([[MRI]] or [[CT]]), and family history consistent with [[autosomal dominant]] inheritance.<ref>Michelucci R, Nobile C. Autosomal Dominant Epilepsy with Auditory Features. 2007 Apr 20 [Updated 2019 Jan 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. ~~GeneReviews®~~ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1537/</ref>		* The clinical diagnosis of ADEAF is established with characteristic clinical features, normal brain imaging ([[MRI]] or [[CT]]), and family history consistent with [[autosomal dominant]] inheritance.<ref>Michelucci R, Nobile C. Autosomal Dominant Epilepsy with Auditory Features. 2007 Apr 20 [Updated 2019 Jan 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews¬Æ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1537/</ref>
	* Identification of a heterozygous pathogenic variant in LGI1, MICAL1, or RELN by molecular [[genetic testing]] establishes the diagnosis.		* Identification of a heterozygous pathogenic variant in LGI1, MICAL1, or RELN by molecular [[genetic testing]] establishes the diagnosis.

	== '''Treatment''' ==		== '''Treatment''' ==
	The [[seizures]] associated with ADPEAF are typically well controlled with medications that are used to treat [[epilepsy]] (called [[Antiepileptic drug\|antiepileptic drugs]]).		The [[seizures]] associated with ADPEAF are typically well controlled with medications that are used to treat [[epilepsy]] (called [[Antiepileptic drug\|antiepileptic drugs]]).

	== '''References''' ==		== '''References''' ==
	<references />		<references />

	{{Seizures and epilepsy}}		{{Seizures and epilepsy}}
	{{Medicine}}		{{Medicine}}

	{{DEFAULTSORT:Temporal Lobe Epilepsy}}		{{DEFAULTSORT:Temporal Lobe Epilepsy}}
	[[Category:Epilepsy types]]		[[Category:Epilepsy types]]

Prab at 01:31, 30 March 2021

2021-03-30T01:31:10Z

New page

== '''Alternate names''' ==
ADLTE; ADPEAF; [[Autosomal dominant]] lateral [[temporal lobe epilepsy]]; ETL1

== '''Definition''' ==
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of [[epilepsy]], a condition that is characterized by recurrent [[seizures]].

== '''Epidemiology''' ==
This condition appears to be uncommon, although its prevalence is unknown.

== '''Cause''' ==
* ADPEAF is caused by changes (mutations) in the '''LGI1 or RELN gene'''.
* This gene provides instructions for making a''' protein called Lgi1 or epitempin''', which is found primarily in nerve cells ([[neurons]]) in the brain.
* Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain.

== '''Gene mutations''' ==
* Mutations in the LGI1 gene likely '''disrupt the function of epitempin'''.
* It is unclear how the altered protein leads to seizure activity in the brain.
* LGI1 mutations have been identified in about half of all families diagnosed with ADPEAF.
* In the remaining families, the cause of the condition is unknown.
* Researchers are searching for other genetic changes that may underlie the condition.

== '''Inheritance''' ==
[[File:Autosomal dominant - en.svg|thumb|right|Autosomal dominant pattern, a 50/50 chance.]]
This condition is inherited in an [[autosomal dominant]] manner.

== '''Onset''' ==
Signs and symptoms of the condition generally begin in adolescence or early adulthood.

== '''Signs and symptoms''' ==
* In ADPEAF, specifically, most affected people experience secondary generalized [[seizures]] and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive [[aphasia]] (inability to understand written or spoken words).
* Less commonly, seizures may cause visual [[hallucinations]], a disturbance in the sense of smell, [[vertigo]], or other symptoms affecting the senses.

== '''Diagnosis''' ==
* The clinical diagnosis of ADEAF is established with characteristic clinical features, normal brain imaging ([[MRI]] or [[CT]]), and family history consistent with [[autosomal dominant]] inheritance.<ref>Michelucci R, Nobile C. Autosomal Dominant Epilepsy with Auditory Features. 2007 Apr 20 [Updated 2019 Jan 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1537/</ref>
* Identification of a heterozygous pathogenic variant in LGI1, MICAL1, or RELN by molecular [[genetic testing]] establishes the diagnosis.

== '''Treatment''' ==
The [[seizures]] associated with ADPEAF are typically well controlled with medications that are used to treat [[epilepsy]] (called [[Antiepileptic drug|antiepileptic drugs]]).

== '''References''' ==
<references />

{{Seizures and epilepsy}}
{{Medicine}}

{{DEFAULTSORT:Temporal Lobe Epilepsy}}
[[Category:Epilepsy types]]
[[Category:Neurotheology]]
[[Category:Temporal lobe]]
{{rarediseases}}
{{stub}}

Autosomal dominant partial epilepsy with auditory features - Revision history

Prab: CSV import

Prab at 01:31, 30 March 2021