Etiology
Pressler RM,
Abend NS,
Auvin S,
Boylan G,
Brigo F,
Cilio MR,
De Vries LS,
Elia M,
Espeche A,
Hahn CD,
Inder T,
Jette N,
Kakooza-Mwesige A,
Mader S,
Mizrahi EM,
Moshé SL,
Nagarajan L,
Noyman I,
Nunes ML,
Samia P,
Shany E,
Shellhaas RA,
Subota A,
Triki CC,
Tsuchida T,
Vinayan KP,
Wilmshurst JM,
Yozawitz EG,
Hartmann H
Epilepsia
2023 Oct;64(10):2550-2570.
Epub 2023 Sep 1
doi: 10.1111/epi.17745.
PMID: 37655702
Akula SK,
Chen AY,
Neil JE,
Shao DD,
Mo A,
Hylton NK,
DiTroia S,
Ganesh VS,
Smith RS,
O'Kane K,
Yeh RC,
Marciano JH,
Kirkham S,
Kenny CJ,
Song JHT,
Al Saffar M,
Millan F,
Harris DJ,
Murphy AV,
Klemp KC,
Braddock SR,
Brand H,
Wong I,
Talkowski ME,
O'Donnell-Luria A,
Lai A,
Hill RS,
Mochida GH,
Doan RN,
Barkovich AJ,
Yang E,
Amrom D,
Andermann E,
Poduri A,
Walsh CA;
Polymicrogyria Genetics Research Network
JAMA Neurol
2023 Sep 1;80(9):980-988.
doi: 10.1001/jamaneurol.2023.2363.
PMID: 37486637Free PMC Article
Giussani G,
Falcicchio G,
La Neve A,
Costagliola G,
Striano P,
Scarabello A,
Mostacci B,
Beghi E;
LICE SUDEP study group
Epilepsia Open
2023 Sep;8(3):728-757.
Epub 2023 May 17
doi: 10.1002/epi4.12722.
PMID: 36896633Free PMC Article
El Ghaleb Y,
Flucher BE
Handb Exp Pharmacol
2023;279:263-288.
doi: 10.1007/164_2022_631.
PMID: 36592228
Maillard PY,
Baer S,
Schaefer É,
Desnous B,
Villeneuve N,
Lépine A,
Fabre A,
Lacoste C,
El Chehadeh S,
Piton A,
Porter LF,
Perriard C,
Wardé MA,
Spitz MA,
Laugel V,
Lesca G,
Putoux A,
Ville D,
Mignot C,
Héron D,
Nabbout R,
Barcia G,
Rio M,
Roubertie A,
Meyer P,
Paquis-Flucklinger V,
Patat O,
Lefranc J,
Gerard M;
Epigen Consortium,
de Bellescize J,
Villard L,
De Saint Martin A,
Milh M
Epilepsia
2022 Oct;63(10):2519-2533.
Epub 2022 Aug 13
doi: 10.1111/epi.17336.
PMID: 35718920Free PMC Article
Diagnosis
Pressler RM,
Abend NS,
Auvin S,
Boylan G,
Brigo F,
Cilio MR,
De Vries LS,
Elia M,
Espeche A,
Hahn CD,
Inder T,
Jette N,
Kakooza-Mwesige A,
Mader S,
Mizrahi EM,
Moshé SL,
Nagarajan L,
Noyman I,
Nunes ML,
Samia P,
Shany E,
Shellhaas RA,
Subota A,
Triki CC,
Tsuchida T,
Vinayan KP,
Wilmshurst JM,
Yozawitz EG,
Hartmann H
Epilepsia
2023 Oct;64(10):2550-2570.
Epub 2023 Sep 1
doi: 10.1111/epi.17745.
PMID: 37655702
Indelicato E,
Boesch S
Handb Exp Pharmacol
2023;279:227-248.
doi: 10.1007/164_2022_625.
PMID: 36592223
Scheffer IE,
Nabbout R
Epilepsia
2019 Dec;60 Suppl 3:S17-S24.
doi: 10.1111/epi.16386.
PMID: 31904117
Nolan D,
Fink J
Handb Clin Neurol
2018;148:467-491.
doi: 10.1016/B978-0-444-64076-5.00030-2.
PMID: 29478594
Wang J,
Lin ZJ,
Liu L,
Xu HQ,
Shi YW,
Yi YH,
He N,
Liao WP
Seizure
2017 Jan;44:11-20.
Epub 2016 Dec 6
doi: 10.1016/j.seizure.2016.11.030.
PMID: 28007376
Therapy
Pressler RM,
Abend NS,
Auvin S,
Boylan G,
Brigo F,
Cilio MR,
De Vries LS,
Elia M,
Espeche A,
Hahn CD,
Inder T,
Jette N,
Kakooza-Mwesige A,
Mader S,
Mizrahi EM,
Moshé SL,
Nagarajan L,
Noyman I,
Nunes ML,
Samia P,
Shany E,
Shellhaas RA,
Subota A,
Triki CC,
Tsuchida T,
Vinayan KP,
Wilmshurst JM,
Yozawitz EG,
Hartmann H
Epilepsia
2023 Oct;64(10):2550-2570.
Epub 2023 Sep 1
doi: 10.1111/epi.17745.
PMID: 37655702
Kuersten M,
Tacke M,
Gerstl L,
Hoelz H,
Stülpnagel CV,
Borggraefe I
Eur J Med Genet
2020 Jan;63(1):103628.
Epub 2019 Feb 14
doi: 10.1016/j.ejmg.2019.02.001.
PMID: 30771507
Sun AX,
Yuan Q,
Fukuda M,
Yu W,
Yan H,
Lim GGY,
Nai MH,
D'Agostino GA,
Tran HD,
Itahana Y,
Wang D,
Lokman H,
Itahana K,
Lim SWL,
Tang J,
Chang YY,
Zhang M,
Cook SA,
Rackham OJL,
Lim CT,
Tan EK,
Ng HH,
Lim KL,
Jiang YH,
Je HS
Science
2019 Dec 20;366(6472):1486-1492.
doi: 10.1126/science.aav5386.
PMID: 31857479Free PMC Article
Cornet MC,
Sands TT,
Cilio MR
Semin Fetal Neonatal Med
2018 Jun;23(3):204-212.
Epub 2018 Jan 31
doi: 10.1016/j.siny.2018.01.004.
PMID: 29426806
Platzer K,
Yuan H,
Schütz H,
Winschel A,
Chen W,
Hu C,
Kusumoto H,
Heyne HO,
Helbig KL,
Tang S,
Willing MC,
Tinkle BT,
Adams DJ,
Depienne C,
Keren B,
Mignot C,
Frengen E,
Strømme P,
Biskup S,
Döcker D,
Strom TM,
Mefford HC,
Myers CT,
Muir AM,
LaCroix A,
Sadleir L,
Scheffer IE,
Brilstra E,
van Haelst MM,
van der Smagt JJ,
Bok LA,
Møller RS,
Jensen UB,
Millichap JJ,
Berg AT,
Goldberg EM,
De Bie I,
Fox S,
Major P,
Jones JR,
Zackai EH,
Abou Jamra R,
Rolfs A,
Leventer RJ,
Lawson JA,
Roscioli T,
Jansen FE,
Ranza E,
Korff CM,
Lehesjoki AE,
Courage C,
Linnankivi T,
Smith DR,
Stanley C,
Mintz M,
McKnight D,
Decker A,
Tan WH,
Tarnopolsky MA,
Brady LI,
Wolff M,
Dondit L,
Pedro HF,
Parisotto SE,
Jones KL,
Patel AD,
Franz DN,
Vanzo R,
Marco E,
Ranells JD,
Di Donato N,
Dobyns WB,
Laube B,
Traynelis SF,
Lemke JR
J Med Genet
2017 Jul;54(7):460-470.
Epub 2017 Apr 4
doi: 10.1136/jmedgenet-2016-104509.
PMID: 28377535Free PMC Article
Prognosis
Giussani G,
Falcicchio G,
La Neve A,
Costagliola G,
Striano P,
Scarabello A,
Mostacci B,
Beghi E;
LICE SUDEP study group
Epilepsia Open
2023 Sep;8(3):728-757.
Epub 2023 May 17
doi: 10.1002/epi4.12722.
PMID: 36896633Free PMC Article
Tian MQ,
Liu XR,
Lin SM,
Wang J,
Luo S,
Gao LD,
Chen XB,
Liang XY,
Liu ZG,
He N,
Yi YH,
Liao WP;
China Epilepsy Gene 1.0 Project
CNS Neurosci Ther
2023 Feb;29(2):727-735.
Epub 2022 Dec 13
doi: 10.1111/cns.14057.
PMID: 36514184Free PMC Article
Nappi P,
Miceli F,
Soldovieri MV,
Ambrosino P,
Barrese V,
Taglialatela M
Pflugers Arch
2020 Jul;472(7):881-898.
Epub 2020 Jun 6
doi: 10.1007/s00424-020-02404-2.
PMID: 32506321
El Achkar CM,
Olson HE,
Poduri A,
Pearl PL
Curr Neurol Neurosci Rep
2015 Jul;15(7):39.
doi: 10.1007/s11910-015-0559-8.
PMID: 26008807
Park JT,
Shahid AM,
Jammoul A
Pediatr Ann
2015 Feb;44(2):e30-5.
doi: 10.3928/00904481-20150203-09.
PMID: 25658216
Clinical prediction guides
XiangWei W,
Perszyk RE,
Liu N,
Xu Y,
Bhattacharya S,
Shaulsky GH,
Smith-Hicks C,
Fatemi A,
Fry AE,
Chandler K,
Wang T,
Vogt J,
Cohen JS,
Paciorkowski AR,
Poduri A,
Zhang Y,
Wang S,
Wang Y,
Zhai Q,
Fang F,
Leng J,
Garber K,
Myers SJ,
Jauss RT,
Park KL,
Benke TA,
Lemke JR,
Yuan H,
Jiang Y,
Traynelis SF
Cell Mol Life Sci
2023 Nov 3;80(11):345.
doi: 10.1007/s00018-023-04991-6.
PMID: 37921875Free PMC Article
Giussani G,
Falcicchio G,
La Neve A,
Costagliola G,
Striano P,
Scarabello A,
Mostacci B,
Beghi E;
LICE SUDEP study group
Epilepsia Open
2023 Sep;8(3):728-757.
Epub 2023 May 17
doi: 10.1002/epi4.12722.
PMID: 36896633Free PMC Article
Tian MQ,
Liu XR,
Lin SM,
Wang J,
Luo S,
Gao LD,
Chen XB,
Liang XY,
Liu ZG,
He N,
Yi YH,
Liao WP;
China Epilepsy Gene 1.0 Project
CNS Neurosci Ther
2023 Feb;29(2):727-735.
Epub 2022 Dec 13
doi: 10.1111/cns.14057.
PMID: 36514184Free PMC Article
Kessi M,
Chen B,
Peng J,
Yan F,
Yang L,
Yin F
Orphanet J Rare Dis
2021 May 13;16(1):219.
doi: 10.1186/s13023-021-01850-0.
PMID: 33985586Free PMC Article
Nappi P,
Miceli F,
Soldovieri MV,
Ambrosino P,
Barrese V,
Taglialatela M
Pflugers Arch
2020 Jul;472(7):881-898.
Epub 2020 Jun 6
doi: 10.1007/s00424-020-02404-2.
PMID: 32506321