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
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
Turnbull J,
Tiberia E,
Striano P,
Genton P,
Carpenter S,
Ackerley CA,
Minassian BA
Epileptic Disord
2016 Sep 1;18(S2):38-62.
doi: 10.1684/epd.2016.0842.
PMID: 27702709Free PMC Article
Kälviäinen R
Semin Neurol
2015 Jun;35(3):293-9.
Epub 2015 Jun 10
doi: 10.1055/s-0035-1552620.
PMID: 26060909
Zupanc ML,
Legros B
Cerebellum
2004;3(3):156-71.
doi: 10.1080/14734220410035356.
PMID: 15543806
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
Nitschke F,
Ahonen SJ,
Nitschke S,
Mitra S,
Minassian BA
Nat Rev Neurol
2018 Oct;14(10):606-617.
doi: 10.1038/s41582-018-0057-0.
PMID: 30143794Free PMC Article
Turnbull J,
Tiberia E,
Striano P,
Genton P,
Carpenter S,
Ackerley CA,
Minassian BA
Epileptic Disord
2016 Sep 1;18(S2):38-62.
doi: 10.1684/epd.2016.0842.
PMID: 27702709Free PMC Article
Kälviäinen R
Semin Neurol
2015 Jun;35(3):293-9.
Epub 2015 Jun 10
doi: 10.1055/s-0035-1552620.
PMID: 26060909
DiMauro S,
Lamperti C
Muscle Nerve
2001 Aug;24(8):984-99.
doi: 10.1002/mus.1103.
PMID: 11439374
Therapy
Zafra-Puerta L,
Iglesias-Cabeza N,
Burgos DF,
Sciaccaluga M,
González-Fernández J,
Bellingacci L,
Canonichesi J,
Sánchez-Martín G,
Costa C,
Sánchez MP,
Serratosa JM
Mol Ther
2024 Jul 3;32(7):2130-2149.
Epub 2024 May 24
doi: 10.1016/j.ymthe.2024.05.032.
PMID: 38796707Free PMC Article
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
Nitschke F,
Ahonen SJ,
Nitschke S,
Mitra S,
Minassian BA
Nat Rev Neurol
2018 Oct;14(10):606-617.
doi: 10.1038/s41582-018-0057-0.
PMID: 30143794Free PMC Article
Ellingwood SS,
Cheng A
J Endocrinol
2018 Sep;238(3):R131-R141.
Epub 2018 Jun 6
doi: 10.1530/JOE-18-0120.
PMID: 29875163Free PMC Article
Monaghan TS,
Delanty N
CNS Drugs
2010 Jul;24(7):549-61.
doi: 10.2165/11319250-000000000-00000.
PMID: 20527995
Prognosis
Mitra S,
Gumusgoz E,
Minassian BA
Rev Neurol (Paris)
2022 Apr;178(4):315-325.
Epub 2021 Jul 21
doi: 10.1016/j.neurol.2021.06.006.
PMID: 34301405Free 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
Turnbull J,
Tiberia E,
Striano P,
Genton P,
Carpenter S,
Ackerley CA,
Minassian BA
Epileptic Disord
2016 Sep 1;18(S2):38-62.
doi: 10.1684/epd.2016.0842.
PMID: 27702709Free PMC Article
Kälviäinen R
Semin Neurol
2015 Jun;35(3):293-9.
Epub 2015 Jun 10
doi: 10.1055/s-0035-1552620.
PMID: 26060909
Malek N,
Stewart W,
Greene J
Pract Neurol
2015 Jun;15(3):164-71.
Epub 2015 Feb 26
doi: 10.1136/practneurol-2014-000994.
PMID: 25720773
Clinical prediction guides
Markussen KH,
Corti M,
Byrne BJ,
Vander Kooi CW,
Sun RC,
Gentry MS
J Neurochem
2024 May;168(5):728-743.
Epub 2023 Aug 9
doi: 10.1111/jnc.15926.
PMID: 37554056Free 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
Duran J,
Gruart A,
López-Ramos JC,
Delgado-García JM,
Guinovart JJ
Adv Neurobiol
2019;23:311-329.
doi: 10.1007/978-3-030-27480-1_10.
PMID: 31667813Free PMC Article
Ellingwood SS,
Cheng A
J Endocrinol
2018 Sep;238(3):R131-R141.
Epub 2018 Jun 6
doi: 10.1530/JOE-18-0120.
PMID: 29875163Free PMC Article
Duran J,
Guinovart JJ
Mol Aspects Med
2015 Dec;46:70-7.
Epub 2015 Sep 5
doi: 10.1016/j.mam.2015.08.007.
PMID: 26344371