Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity

Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in...
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Autor*in:	Sara Olivotto [verfasserIn] Anna Freddi [verfasserIn] Rossella Lavatelli [verfasserIn] Eleonora Basso [verfasserIn] Alessia Leidi [verfasserIn] Barbara Castellotti [verfasserIn] Luigina Spaccini [verfasserIn] Stefania Maria Bova [verfasserIn] Pierangelo Veggiotti [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	GABRA1 Perampanel Myoclonic seizures Photoparoxysmal response

Übergeordnetes Werk:	In: Epilepsy & Behavior Reports - Elsevier, 2020, 19(2022), Seite 100544-
Übergeordnetes Werk:	volume:19 ; year:2022 ; pages:100544-

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1016/j.ebr.2022.100544

Katalog-ID:	DOAJ034813756

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520			\|a Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case.
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spelling	10.1016/j.ebr.2022.100544 doi (DE-627)DOAJ034813756 (DE-599)DOAJcaa619c8297c430cb9128574f1b2054b DE-627 ger DE-627 rakwb eng RC346-429 QP351-495 Sara Olivotto verfasserin aut Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case. GABRA1 Perampanel Myoclonic seizures Photoparoxysmal response Neurology. Diseases of the nervous system Neurophysiology and neuropsychology Anna Freddi verfasserin aut Rossella Lavatelli verfasserin aut Eleonora Basso verfasserin aut Alessia Leidi verfasserin aut Barbara Castellotti verfasserin aut Luigina Spaccini verfasserin aut Stefania Maria Bova verfasserin aut Pierangelo Veggiotti verfasserin aut In Epilepsy & Behavior Reports Elsevier, 2020 19(2022), Seite 100544- (DE-627)1690904615 25899864 nnns volume:19 year:2022 pages:100544- https://doi.org/10.1016/j.ebr.2022.100544 kostenfrei https://doaj.org/article/caa619c8297c430cb9128574f1b2054b kostenfrei http://www.sciencedirect.com/science/article/pii/S2589986422000211 kostenfrei https://doaj.org/toc/2589-9864 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 19 2022 100544-
allfields_unstemmed	10.1016/j.ebr.2022.100544 doi (DE-627)DOAJ034813756 (DE-599)DOAJcaa619c8297c430cb9128574f1b2054b DE-627 ger DE-627 rakwb eng RC346-429 QP351-495 Sara Olivotto verfasserin aut Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case. GABRA1 Perampanel Myoclonic seizures Photoparoxysmal response Neurology. Diseases of the nervous system Neurophysiology and neuropsychology Anna Freddi verfasserin aut Rossella Lavatelli verfasserin aut Eleonora Basso verfasserin aut Alessia Leidi verfasserin aut Barbara Castellotti verfasserin aut Luigina Spaccini verfasserin aut Stefania Maria Bova verfasserin aut Pierangelo Veggiotti verfasserin aut In Epilepsy & Behavior Reports Elsevier, 2020 19(2022), Seite 100544- (DE-627)1690904615 25899864 nnns volume:19 year:2022 pages:100544- https://doi.org/10.1016/j.ebr.2022.100544 kostenfrei https://doaj.org/article/caa619c8297c430cb9128574f1b2054b kostenfrei http://www.sciencedirect.com/science/article/pii/S2589986422000211 kostenfrei https://doaj.org/toc/2589-9864 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 19 2022 100544-
allfieldsGer	10.1016/j.ebr.2022.100544 doi (DE-627)DOAJ034813756 (DE-599)DOAJcaa619c8297c430cb9128574f1b2054b DE-627 ger DE-627 rakwb eng RC346-429 QP351-495 Sara Olivotto verfasserin aut Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case. GABRA1 Perampanel Myoclonic seizures Photoparoxysmal response Neurology. Diseases of the nervous system Neurophysiology and neuropsychology Anna Freddi verfasserin aut Rossella Lavatelli verfasserin aut Eleonora Basso verfasserin aut Alessia Leidi verfasserin aut Barbara Castellotti verfasserin aut Luigina Spaccini verfasserin aut Stefania Maria Bova verfasserin aut Pierangelo Veggiotti verfasserin aut In Epilepsy & Behavior Reports Elsevier, 2020 19(2022), Seite 100544- (DE-627)1690904615 25899864 nnns volume:19 year:2022 pages:100544- https://doi.org/10.1016/j.ebr.2022.100544 kostenfrei https://doaj.org/article/caa619c8297c430cb9128574f1b2054b kostenfrei http://www.sciencedirect.com/science/article/pii/S2589986422000211 kostenfrei https://doaj.org/toc/2589-9864 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 19 2022 100544-
allfieldsSound	10.1016/j.ebr.2022.100544 doi (DE-627)DOAJ034813756 (DE-599)DOAJcaa619c8297c430cb9128574f1b2054b DE-627 ger DE-627 rakwb eng RC346-429 QP351-495 Sara Olivotto verfasserin aut Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case. GABRA1 Perampanel Myoclonic seizures Photoparoxysmal response Neurology. Diseases of the nervous system Neurophysiology and neuropsychology Anna Freddi verfasserin aut Rossella Lavatelli verfasserin aut Eleonora Basso verfasserin aut Alessia Leidi verfasserin aut Barbara Castellotti verfasserin aut Luigina Spaccini verfasserin aut Stefania Maria Bova verfasserin aut Pierangelo Veggiotti verfasserin aut In Epilepsy & Behavior Reports Elsevier, 2020 19(2022), Seite 100544- (DE-627)1690904615 25899864 nnns volume:19 year:2022 pages:100544- https://doi.org/10.1016/j.ebr.2022.100544 kostenfrei https://doaj.org/article/caa619c8297c430cb9128574f1b2054b kostenfrei http://www.sciencedirect.com/science/article/pii/S2589986422000211 kostenfrei https://doaj.org/toc/2589-9864 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 19 2022 100544-
language	English
source	In Epilepsy & Behavior Reports 19(2022), Seite 100544- volume:19 year:2022 pages:100544-
sourceStr	In Epilepsy & Behavior Reports 19(2022), Seite 100544- volume:19 year:2022 pages:100544-
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	GABRA1 Perampanel Myoclonic seizures Photoparoxysmal response Neurology. Diseases of the nervous system Neurophysiology and neuropsychology
isfreeaccess_bool	true
container_title	Epilepsy & Behavior Reports
authorswithroles_txt_mv	Sara Olivotto @@aut@@ Anna Freddi @@aut@@ Rossella Lavatelli @@aut@@ Eleonora Basso @@aut@@ Alessia Leidi @@aut@@ Barbara Castellotti @@aut@@ Luigina Spaccini @@aut@@ Stefania Maria Bova @@aut@@ Pierangelo Veggiotti @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	1690904615
id	DOAJ034813756
language_de	englisch
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callnumber-first	R - Medicine
author	Sara Olivotto
spellingShingle	Sara Olivotto misc RC346-429 misc QP351-495 misc GABRA1 misc Perampanel misc Myoclonic seizures misc Photoparoxysmal response misc Neurology. Diseases of the nervous system misc Neurophysiology and neuropsychology Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
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topic_title	RC346-429 QP351-495 Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity GABRA1 Perampanel Myoclonic seizures Photoparoxysmal response
topic	misc RC346-429 misc QP351-495 misc GABRA1 misc Perampanel misc Myoclonic seizures misc Photoparoxysmal response misc Neurology. Diseases of the nervous system misc Neurophysiology and neuropsychology
topic_unstemmed	misc RC346-429 misc QP351-495 misc GABRA1 misc Perampanel misc Myoclonic seizures misc Photoparoxysmal response misc Neurology. Diseases of the nervous system misc Neurophysiology and neuropsychology
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title	Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
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title_full	Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
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title_sort	successful use of perampanel in gabra1-related myoclonic epilepsy with photosensitivity
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title_auth	Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
abstract	Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case.
abstractGer	Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case.
abstract_unstemmed	Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies. These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. New evidence is needed to confirm our findings in this case.
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title_short	Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
url	https://doi.org/10.1016/j.ebr.2022.100544 https://doaj.org/article/caa619c8297c430cb9128574f1b2054b http://www.sciencedirect.com/science/article/pii/S2589986422000211 https://doaj.org/toc/2589-9864
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These have ranged from mild generalized forms to early-onset severe epileptic encephalopathies. Both in mild and in severe forms, tonic-clonic and myoclonic seizures with generalized spike and wave discharges and photoparoxysmal responses are common clinical manifestations. We present the case of a 14-year-old girl referred to our clinic with uncontrolled epilepsy. She was found to carry a heterozygous variant (c.335G < A) in GABRA1, already described in the literature and classified as “pathogenic” according to ACMG guidelines. The patient showed severe drug resistance with seizures often triggered by photic stimulation. The introduction of perampanel therapy led to overall reduction of the focal and generalized myoclonic seizures and complete clinical control of the light-triggered seizures.To our knowledge this is the first report of perampanel efficacy in photosensitive epilepsy, and in particular in the presence of a GABRA1 variant. 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Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity

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