Etiology
Panchal U,
Salazar de Pablo G,
Franco M,
Moreno C,
Parellada M,
Arango C,
Fusar-Poli P
Eur Child Adolesc Psychiatry
2023 Jul;32(7):1151-1177.
Epub 2021 Aug 18
doi: 10.1007/s00787-021-01856-w.
PMID: 34406494Free PMC Article
Farah BL,
Yen PM,
Koeberl DD
Mol Genet Metab
2020 Jan;129(1):3-12.
Epub 2019 Nov 21
doi: 10.1016/j.ymgme.2019.11.005.
PMID: 31787497Free PMC Article
Orsini A,
Valetto A,
Bertini V,
Esposito M,
Carli N,
Minassian BA,
Bonuccelli A,
Peroni D,
Michelucci R,
Striano P
Seizure
2019 Oct;71:247-257.
Epub 2019 Aug 23
doi: 10.1016/j.seizure.2019.08.012.
PMID: 31476531Free PMC Article
Cenacchi G,
Papa V,
Costa R,
Pegoraro V,
Marozzo R,
Fanin M,
Angelini C
Virchows Arch
2019 Dec;475(6):671-686.
Epub 2019 Jul 30
doi: 10.1007/s00428-019-02633-6.
PMID: 31363843
Kälviäinen R
Semin Neurol
2015 Jun;35(3):293-9.
Epub 2015 Jun 10
doi: 10.1055/s-0035-1552620.
PMID: 26060909
Diagnosis
Orsini A,
Valetto A,
Bertini V,
Esposito M,
Carli N,
Minassian BA,
Bonuccelli A,
Peroni D,
Michelucci R,
Striano P
Seizure
2019 Oct;71:247-257.
Epub 2019 Aug 23
doi: 10.1016/j.seizure.2019.08.012.
PMID: 31476531Free PMC Article
Cenacchi G,
Papa V,
Costa R,
Pegoraro V,
Marozzo R,
Fanin M,
Angelini C
Virchows Arch
2019 Dec;475(6):671-686.
Epub 2019 Jul 30
doi: 10.1007/s00428-019-02633-6.
PMID: 31363843
Genton P,
Striano P,
Minassian BA
Epileptic Disord
2016 Sep 1;18(S2):3-10.
doi: 10.1684/epd.2016.0834.
PMID: 27621064Free PMC Article
Kälviäinen R
Semin Neurol
2015 Jun;35(3):293-9.
Epub 2015 Jun 10
doi: 10.1055/s-0035-1552620.
PMID: 26060909
Goebel HH,
Müller HD
Ultrastruct Pathol
2013 Feb;37(1):19-22.
doi: 10.3109/01913123.2012.670060.
PMID: 23383614
Therapy
Donohue KJ,
Fitzsimmons B,
Bruntz RC,
Markussen KH,
Young LEA,
Clarke HA,
Coburn PT,
Griffith LE,
Sanders W,
Klier J,
Burke SN,
Maurer AP,
Minassian BA,
Sun RC,
Kordasiewisz HB,
Gentry MS
Neurotherapeutics
2023 Oct;20(6):1808-1819.
Epub 2023 Sep 12
doi: 10.1007/s13311-023-01434-9.
PMID: 37700152Free PMC Article
Zeka N,
Zogaj L,
Gerguri A,
Bejiqi R,
Ratkoceri R,
Maloku A,
Mustafa A,
Shahini L,
Maxharaj J
J Med Case Rep
2022 Oct 3;16(1):360.
doi: 10.1186/s13256-022-03537-x.
PMID: 36192771Free PMC Article
Deniz K
Turk Patoloji Derg
2021;37(1):51-55.
doi: 10.5146/tjpath.2020.01510.
PMID: 33021734Free PMC Article
Monaghan TS,
Delanty N
CNS Drugs
2010 Jul;24(7):549-61.
doi: 10.2165/11319250-000000000-00000.
PMID: 20527995
Delgado-Escueta AV,
Bourgeois BF
Epilepsia
2008 Dec;49 Suppl 9:13-24.
doi: 10.1111/j.1528-1167.2008.01922.x.
PMID: 19087113
Prognosis
Pondrelli F,
Minardi R,
Muccioli L,
Zenesini C,
Vignatelli L,
Licchetta L,
Mostacci B,
Tinuper P,
Vander Kooi CW,
Gentry MS,
Bisulli F
Orphanet J Rare Dis
2023 Sep 2;18(1):263.
doi: 10.1186/s13023-023-02880-6.
PMID: 37658439Free PMC Article
Pondrelli F,
Muccioli L,
Licchetta L,
Mostacci B,
Zenesini C,
Tinuper P,
Vignatelli L,
Bisulli F
Orphanet J Rare Dis
2021 Aug 16;16(1):362.
doi: 10.1186/s13023-021-01989-w.
PMID: 34399803Free PMC Article
Orsini A,
Valetto A,
Bertini V,
Esposito M,
Carli N,
Minassian BA,
Bonuccelli A,
Peroni D,
Michelucci R,
Striano P
Seizure
2019 Oct;71:247-257.
Epub 2019 Aug 23
doi: 10.1016/j.seizure.2019.08.012.
PMID: 31476531Free PMC Article
Kälviäinen R
Semin Neurol
2015 Jun;35(3):293-9.
Epub 2015 Jun 10
doi: 10.1055/s-0035-1552620.
PMID: 26060909
Ebrahimi-Fakhari D,
Wahlster L,
Hoffmann GF,
Kölker S
Pediatr Res
2014 Jan;75(1-2):217-26.
Epub 2013 Oct 28
doi: 10.1038/pr.2013.185.
PMID: 24165736
Clinical prediction guides
Pondrelli F,
Muccioli L,
Licchetta L,
Mostacci B,
Zenesini C,
Tinuper P,
Vignatelli L,
Bisulli F
Orphanet J Rare Dis
2021 Aug 16;16(1):362.
doi: 10.1186/s13023-021-01989-w.
PMID: 34399803Free PMC Article
Riva A,
Orsini A,
Scala M,
Taramasso V,
Canafoglia L,
d'Orsi G,
Di Claudio MT,
Avolio C,
D'Aniello A,
Elia M,
Franceschetti S,
Di Gennaro G,
Bisulli F,
Tinuper P,
Tappatà M,
Romeo A,
Freri E,
Marini C,
Costa C,
Sofia V,
Ferlazzo E,
Magaudda A,
Veggiotti P,
Gennaro E,
Pistorio A,
Minetti C,
Bianchi A,
Striano S,
Michelucci R,
Zara F,
Minassian BA,
Striano P;
Italian League Against Epilepsy Genetic Commission
J Neurol Sci
2021 May 15;424:117409.
Epub 2021 Mar 20
doi: 10.1016/j.jns.2021.117409.
PMID: 33773408Free PMC Article
Beniczky S,
Aurlien H,
Franceschetti S,
Martins da Silva A,
Bisulli F,
Bentes C,
Canafoglia L,
Ferri L,
Krýsl D,
Rita Peralta A,
Rácz A,
Cross JH,
Arzimanoglou A
Epilepsia
2020 Sep;61(9):e124-e128.
Epub 2020 Sep 19
doi: 10.1111/epi.16655.
PMID: 32949474
Kecmanović M,
Jović N,
Keckarević-Marković M,
Keckarević D,
Stevanović G,
Ignjatović P,
Romac S
Clin Genet
2016 Jan;89(1):104-8.
Epub 2015 Mar 19
doi: 10.1111/cge.12570.
PMID: 25683376
Sedel F,
Gourfinkel-An I,
Lyon-Caen O,
Baulac M,
Saudubray JM,
Navarro V
J Inherit Metab Dis
2007 Nov;30(6):846-54.
Epub 2007 Oct 22
doi: 10.1007/s10545-007-0723-7.
PMID: 17957491