Etiology
Scheffer IE,
Zuberi S,
Mefford HC,
Guerrini R,
McTague A
Nat Rev Dis Primers
2024 Sep 5;10(1):61.
doi: 10.1038/s41572-024-00546-6.
PMID: 39237642
Nissenkorn A,
Kluger G,
Schubert-Bast S,
Bayat A,
Bobylova M,
Bonanni P,
Ceulemans B,
Coppola A,
Di Bonaventura C,
Feucht M,
Fuchs A,
Gröppel G,
Heimer G,
Herdt B,
Kulikova S,
Mukhin K,
Nicassio S,
Orsini A,
Panagiotou M,
Pringsheim M,
Puest B,
Pylaeva O,
Ramantani G,
Tsekoura M,
Ricciardelli P,
Lerman Sagie T,
Stark B,
Striano P,
van Baalen A,
De Wachter M,
Cerulli Irelli E,
Cuccurullo C,
von Stülpnagel C,
Russo A
Epilepsia
2023 Apr;64(4):866-874.
Epub 2023 Feb 20
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PMID: 36734057
Strzelczyk A,
Schubert-Bast S
CNS Drugs
2021 Jan;35(1):61-83.
Epub 2021 Jan 21
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PMID: 33479851Free PMC Article
Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R
Epilepsia
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
PMID: 32954514
Rochtus A,
Olson HE,
Smith L,
Keith LG,
El Achkar C,
Taylor A,
Mahida S,
Park M,
Kelly M,
Shain C,
Rockowitz S,
Rosen Sheidley B,
Poduri A
Epilepsia
2020 Feb;61(2):249-258.
Epub 2020 Jan 19
doi: 10.1111/epi.16427.
PMID: 31957018Free PMC Article
Diagnosis
Scheffer IE,
Zuberi S,
Mefford HC,
Guerrini R,
McTague A
Nat Rev Dis Primers
2024 Sep 5;10(1):61.
doi: 10.1038/s41572-024-00546-6.
PMID: 39237642
Donnan AM,
Schneider AL,
Russ-Hall S,
Churilov L,
Scheffer IE
Neurology
2023 Apr 18;100(16):e1712-e1722.
Epub 2023 Feb 7
doi: 10.1212/WNL.0000000000207080.
PMID: 36750385Free PMC Article
Saleh S,
Beyyumi E,
Al Kaabi A,
Hertecant J,
Barakat D,
Al Dhaheri NS,
Al-Gazali L,
Al Shamsi A
Clin Genet
2021 Nov;100(5):573-600.
Epub 2021 Aug 19
doi: 10.1111/cge.14044.
PMID: 34374989
Rochtus A,
Olson HE,
Smith L,
Keith LG,
El Achkar C,
Taylor A,
Mahida S,
Park M,
Kelly M,
Shain C,
Rockowitz S,
Rosen Sheidley B,
Poduri A
Epilepsia
2020 Feb;61(2):249-258.
Epub 2020 Jan 19
doi: 10.1111/epi.16427.
PMID: 31957018Free PMC Article
Takata A,
Nakashima M,
Saitsu H,
Mizuguchi T,
Mitsuhashi S,
Takahashi Y,
Okamoto N,
Osaka H,
Nakamura K,
Tohyama J,
Haginoya K,
Takeshita S,
Kuki I,
Okanishi T,
Goto T,
Sasaki M,
Sakai Y,
Miyake N,
Miyatake S,
Tsuchida N,
Iwama K,
Minase G,
Sekiguchi F,
Fujita A,
Imagawa E,
Koshimizu E,
Uchiyama Y,
Hamanaka K,
Ohba C,
Itai T,
Aoi H,
Saida K,
Sakaguchi T,
Den K,
Takahashi R,
Ikeda H,
Yamaguchi T,
Tsukamoto K,
Yoshitomi S,
Oboshi T,
Imai K,
Kimizu T,
Kobayashi Y,
Kubota M,
Kashii H,
Baba S,
Iai M,
Kira R,
Hara M,
Ohta M,
Miyata Y,
Miyata R,
Takanashi JI,
Matsui J,
Yokochi K,
Shimono M,
Amamoto M,
Takayama R,
Hirabayashi S,
Aiba K,
Matsumoto H,
Nabatame S,
Shiihara T,
Kato M,
Matsumoto N
Nat Commun
2019 Jun 7;10(1):2506.
doi: 10.1038/s41467-019-10482-9.
PMID: 31175295Free PMC Article
Therapy
Juliá-Palacios N,
Olivella M,
Sigatullina Bondarenko M,
Ibáñez-Micó S,
Muñoz-Cabello B,
Alonso-Luengo O,
Soto-Insuga V,
García-Navas D,
Cuesta-Herraiz L,
Andreo-Lillo P,
Aguilera-Albesa S,
Hedrera-Fernández A,
González Alguacil E,
Sánchez-Carpintero R,
Martín Del Valle F,
Jiménez González E,
Cean Cabrera L,
Medina-Rivera I,
Perez-Ordoñez M,
Colomé R,
Lopez L,
Engracia Cazorla M,
Fornaguera M,
Ormazabal A,
Alonso-Colmenero I,
Illescas KS,
Balsells-Mejía S,
Mari-Vico R,
Duffo Viñas M,
Cappuccio G,
Terrone G,
Romano R,
Manti F,
Mastrangelo M,
Alfonsi C,
de Siqueira Barros B,
Nizon M,
Gjerulfsen CE,
Muro VL,
Karall D,
Zeiner F,
Masnada S,
Peterlongo I,
Oyarzábal A,
Santos-Gómez A,
Altafaj X,
García-Cazorla Á
Brain
2024 May 3;147(5):1653-1666.
doi: 10.1093/brain/awae041.
PMID: 38380699
Schoeler NE,
Marston L,
Lyons L,
Halsall S,
Jain R,
Titre-Johnson S,
Balogun M,
Heales SJR,
Eaton S,
Orford M,
Neal E,
Reilly C,
Eltze C,
Stephen E,
Mallick AA,
O'Callaghan F,
Agrawal S,
Parker A,
Kirkpatrick M,
Brunklaus A,
McLellan A,
McCullagh H,
Samanta R,
Kneen R,
Tan HJ,
Devlin A,
Prasad M,
Rattihalli R,
Basu H,
Desurkar A,
Williams R,
Fallon P,
Nazareth I,
Freemantle N,
Cross JH;
KIWE study group
Lancet Neurol
2023 Dec;22(12):1113-1124.
doi: 10.1016/S1474-4422(23)00370-8.
PMID: 37977712
Nissenkorn A,
Kluger G,
Schubert-Bast S,
Bayat A,
Bobylova M,
Bonanni P,
Ceulemans B,
Coppola A,
Di Bonaventura C,
Feucht M,
Fuchs A,
Gröppel G,
Heimer G,
Herdt B,
Kulikova S,
Mukhin K,
Nicassio S,
Orsini A,
Panagiotou M,
Pringsheim M,
Puest B,
Pylaeva O,
Ramantani G,
Tsekoura M,
Ricciardelli P,
Lerman Sagie T,
Stark B,
Striano P,
van Baalen A,
De Wachter M,
Cerulli Irelli E,
Cuccurullo C,
von Stülpnagel C,
Russo A
Epilepsia
2023 Apr;64(4):866-874.
Epub 2023 Feb 20
doi: 10.1111/epi.17530.
PMID: 36734057
Strzelczyk A,
Schubert-Bast S
CNS Drugs
2021 Jan;35(1):61-83.
Epub 2021 Jan 21
doi: 10.1007/s40263-020-00784-8.
PMID: 33479851Free PMC Article
Brunklaus A,
Du J,
Steckler F,
Ghanty II,
Johannesen KM,
Fenger CD,
Schorge S,
Baez-Nieto D,
Wang HR,
Allen A,
Pan JQ,
Lerche H,
Heyne H,
Symonds JD,
Zuberi SM,
Sanders S,
Sheidley BR,
Craiu D,
Olson HE,
Weckhuysen S,
DeJonge P,
Helbig I,
Van Esch H,
Busa T,
Milh M,
Isidor B,
Depienne C,
Poduri A,
Campbell AJ,
Dimidschstein J,
Møller RS,
Lal D
Epilepsia
2020 Mar;61(3):387-399.
Epub 2020 Feb 23
doi: 10.1111/epi.16438.
PMID: 32090326
Prognosis
Xie C,
Kessi M,
Yin F,
Peng J
Mol Neurobiol
2024 Nov;61(11):8491-8517.
Epub 2024 Mar 22
doi: 10.1007/s12035-024-04120-9.
PMID: 38517617
Schoeler NE,
Marston L,
Lyons L,
Halsall S,
Jain R,
Titre-Johnson S,
Balogun M,
Heales SJR,
Eaton S,
Orford M,
Neal E,
Reilly C,
Eltze C,
Stephen E,
Mallick AA,
O'Callaghan F,
Agrawal S,
Parker A,
Kirkpatrick M,
Brunklaus A,
McLellan A,
McCullagh H,
Samanta R,
Kneen R,
Tan HJ,
Devlin A,
Prasad M,
Rattihalli R,
Basu H,
Desurkar A,
Williams R,
Fallon P,
Nazareth I,
Freemantle N,
Cross JH;
KIWE study group
Lancet Neurol
2023 Dec;22(12):1113-1124.
doi: 10.1016/S1474-4422(23)00370-8.
PMID: 37977712
Matricardi S,
De Liso P,
Freri E,
Costa P,
Castellotti B,
Magri S,
Gellera C,
Granata T,
Musante L,
Lesca G,
Oertel J,
Craiu D,
Hammer TB,
Møller RS,
Barisic N,
Abou Jamra R,
Polster T,
Vigevano F,
Marini C
Epilepsia
2020 Nov;61(11):2474-2485.
Epub 2020 Oct 16
doi: 10.1111/epi.16699.
PMID: 33063863
Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R
Epilepsia
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
PMID: 32954514
Bayat A,
Knaus A,
Pendziwiat M,
Afenjar A,
Barakat TS,
Bosch F,
Callewaert B,
Calvas P,
Ceulemans B,
Chassaing N,
Depienne C,
Endziniene M,
Ferreira CR,
Moura de Souza CF,
Freihuber C,
Ganesan S,
Gataullina S,
Guerrini R,
Guerrot AM,
Hansen L,
Jezela-Stanek A,
Karsenty C,
Kievit A,
Kooy FR,
Korff CM,
Kragh Hansen J,
Larsen M,
Layet V,
Lesca G,
McBride KL,
Meuwissen M,
Mignot C,
Montomoli M,
Moore H,
Naudion S,
Nava C,
Nougues MC,
Parrini E,
Pastore M,
Schelhaas JH,
Skinner S,
Szczałuba K,
Thomas A,
Thomassen M,
Tranebjaerg L,
van Slegtenhorst M,
Wolfe LA,
Lal D,
Gardella E,
Bomme Ousager L,
Brünger T,
Helbig I,
Krawitz P,
Møller RS
Epilepsia
2020 Jun;61(6):1142-1155.
Epub 2020 May 26
doi: 10.1111/epi.16545.
PMID: 32452540
Clinical prediction guides
Scheffer IE,
Zuberi S,
Mefford HC,
Guerrini R,
McTague A
Nat Rev Dis Primers
2024 Sep 5;10(1):61.
doi: 10.1038/s41572-024-00546-6.
PMID: 39237642
Maroofian R,
Kaiyrzhanov R,
Cali E,
Zamani M,
Zaki MS,
Ferla M,
Tortora D,
Sadeghian S,
Saadi SM,
Abdullah U,
Karimiani EG,
Efthymiou S,
Yeşil G,
Alavi S,
Al Shamsi AM,
Tajsharghi H,
Abdel-Hamid MS,
Saadi NW,
Al Mutairi F,
Alabdi L,
Beetz C,
Ali Z,
Toosi MB,
Rudnik-Schöneborn S,
Babaei M,
Isohanni P,
Muhammad J,
Khan S,
Al Shalan M,
Hickey SE,
Marom D,
Elhanan E,
Kurian MA,
Marafi D,
Saberi A,
Hamid M,
Spaull R,
Meng L,
Lalani S,
Maqbool S,
Rahman F,
Seeger J,
Palculict TB,
Lau T,
Murphy D,
Mencacci NE,
Steindl K,
Begemann A,
Rauch A,
Akbas S,
Aslanger AD,
Salpietro V,
Yousaf H,
Ben-Shachar S,
Ejeskär K,
Al Aqeel AI,
High FA,
Armstrong-Javors AE,
Zahraei SM,
Seifi T,
Zeighami J,
Shariati G,
Sedaghat A,
Asl SN,
Shahrooei M,
Zifarelli G,
Burglen L,
Ravelli C,
Zschocke J,
Schatz UA,
Ghavideldarestani M,
Kamel WA,
Van Esch H,
Hackenberg A,
Taylor JC,
Al-Gazali L,
Bauer P,
Gleeson JJ,
Alkuraya FS,
Lupski JR,
Galehdari H,
Azizimalamiri R,
Chung WK,
Baig SM,
Houlden H,
Severino M
Brain
2023 Dec 1;146(12):5031-5043.
doi: 10.1093/brain/awad257.
PMID: 37517035Free PMC Article
Donnan AM,
Schneider AL,
Russ-Hall S,
Churilov L,
Scheffer IE
Neurology
2023 Apr 18;100(16):e1712-e1722.
Epub 2023 Feb 7
doi: 10.1212/WNL.0000000000207080.
PMID: 36750385Free PMC Article
Strzelczyk A,
Schubert-Bast S
CNS Drugs
2021 Jan;35(1):61-83.
Epub 2021 Jan 21
doi: 10.1007/s40263-020-00784-8.
PMID: 33479851Free PMC Article
Takata A,
Nakashima M,
Saitsu H,
Mizuguchi T,
Mitsuhashi S,
Takahashi Y,
Okamoto N,
Osaka H,
Nakamura K,
Tohyama J,
Haginoya K,
Takeshita S,
Kuki I,
Okanishi T,
Goto T,
Sasaki M,
Sakai Y,
Miyake N,
Miyatake S,
Tsuchida N,
Iwama K,
Minase G,
Sekiguchi F,
Fujita A,
Imagawa E,
Koshimizu E,
Uchiyama Y,
Hamanaka K,
Ohba C,
Itai T,
Aoi H,
Saida K,
Sakaguchi T,
Den K,
Takahashi R,
Ikeda H,
Yamaguchi T,
Tsukamoto K,
Yoshitomi S,
Oboshi T,
Imai K,
Kimizu T,
Kobayashi Y,
Kubota M,
Kashii H,
Baba S,
Iai M,
Kira R,
Hara M,
Ohta M,
Miyata Y,
Miyata R,
Takanashi JI,
Matsui J,
Yokochi K,
Shimono M,
Amamoto M,
Takayama R,
Hirabayashi S,
Aiba K,
Matsumoto H,
Nabatame S,
Shiihara T,
Kato M,
Matsumoto N
Nat Commun
2019 Jun 7;10(1):2506.
doi: 10.1038/s41467-019-10482-9.
PMID: 31175295Free PMC Article