Etiology
Caraballo RH,
Reyes Valenzuela G,
Fortini S,
Espeche A,
Gamboni B,
Bautista C,
Cachia P,
Semprino M,
Gallo A,
Galicchio S
Epilepsy Behav
2022 Jun;131(Pt A):108702.
Epub 2022 May 5
doi: 10.1016/j.yebeh.2022.108702.
PMID: 35526461
Manivannan SN,
Roovers J,
Smal N,
Myers CT,
Turkdogan D,
Roelens F,
Kanca O,
Chung HL,
Scholz T,
Hermann K,
Bierhals T,
Caglayan HS,
Stamberger H;
MAE Working Group of EuroEPINOMICS RES Consortium,
Mefford H,
de Jonghe P,
Yamamoto S,
Weckhuysen S,
Bellen HJ
Brain
2022 Jun 3;145(5):1684-1697.
doi: 10.1093/brain/awab409.
PMID: 34788397Free PMC Article
Mattison KA,
Butler KM,
Inglis GAS,
Dayan O,
Boussidan H,
Bhambhani V,
Philbrook B,
da Silva C,
Alexander JJ,
Kanner BI,
Escayg A
Epilepsia
2018 Sep;59(9):e135-e141.
Epub 2018 Aug 21
doi: 10.1111/epi.14531.
PMID: 30132828
Johannesen KM,
Gardella E,
Linnankivi T,
Courage C,
de Saint Martin A,
Lehesjoki AE,
Mignot C,
Afenjar A,
Lesca G,
Abi-Warde MT,
Chelly J,
Piton A,
Merritt JL 2nd,
Rodan LH,
Tan WH,
Bird LM,
Nespeca M,
Gleeson JG,
Yoo Y,
Choi M,
Chae JH,
Czapansky-Beilman D,
Reichert SC,
Pendziwiat M,
Verhoeven JS,
Schelhaas HJ,
Devinsky O,
Christensen J,
Specchio N,
Trivisano M,
Weber YG,
Nava C,
Keren B,
Doummar D,
Schaefer E,
Hopkins S,
Dubbs H,
Shaw JE,
Pisani L,
Myers CT,
Tang S,
Tang S,
Pal DK,
Millichap JJ,
Carvill GL,
Helbig KL,
Mecarelli O,
Striano P,
Helbig I,
Rubboli G,
Mefford HC,
Møller RS
Epilepsia
2018 Feb;59(2):389-402.
Epub 2018 Jan 8
doi: 10.1111/epi.13986.
PMID: 29315614Free PMC Article
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Diagnosis
Caraballo RH,
Reyes Valenzuela G,
Fortini S,
Espeche A,
Gamboni B,
Bautista C,
Cachia P,
Semprino M,
Gallo A,
Galicchio S
Epilepsy Behav
2022 Jun;131(Pt A):108702.
Epub 2022 May 5
doi: 10.1016/j.yebeh.2022.108702.
PMID: 35526461
Manivannan SN,
Roovers J,
Smal N,
Myers CT,
Turkdogan D,
Roelens F,
Kanca O,
Chung HL,
Scholz T,
Hermann K,
Bierhals T,
Caglayan HS,
Stamberger H;
MAE Working Group of EuroEPINOMICS RES Consortium,
Mefford H,
de Jonghe P,
Yamamoto S,
Weckhuysen S,
Bellen HJ
Brain
2022 Jun 3;145(5):1684-1697.
doi: 10.1093/brain/awab409.
PMID: 34788397Free PMC Article
Routier L,
Verny F,
Barcia G,
Chemaly N,
Desguerre I,
Colleaux L,
Nabbout R
Clin Genet
2019 Sep;96(3):254-260.
Epub 2019 Jun 6
doi: 10.1111/cge.13581.
PMID: 31170314
Mattison KA,
Butler KM,
Inglis GAS,
Dayan O,
Boussidan H,
Bhambhani V,
Philbrook B,
da Silva C,
Alexander JJ,
Kanner BI,
Escayg A
Epilepsia
2018 Sep;59(9):e135-e141.
Epub 2018 Aug 21
doi: 10.1111/epi.14531.
PMID: 30132828
Johannesen KM,
Gardella E,
Linnankivi T,
Courage C,
de Saint Martin A,
Lehesjoki AE,
Mignot C,
Afenjar A,
Lesca G,
Abi-Warde MT,
Chelly J,
Piton A,
Merritt JL 2nd,
Rodan LH,
Tan WH,
Bird LM,
Nespeca M,
Gleeson JG,
Yoo Y,
Choi M,
Chae JH,
Czapansky-Beilman D,
Reichert SC,
Pendziwiat M,
Verhoeven JS,
Schelhaas HJ,
Devinsky O,
Christensen J,
Specchio N,
Trivisano M,
Weber YG,
Nava C,
Keren B,
Doummar D,
Schaefer E,
Hopkins S,
Dubbs H,
Shaw JE,
Pisani L,
Myers CT,
Tang S,
Tang S,
Pal DK,
Millichap JJ,
Carvill GL,
Helbig KL,
Mecarelli O,
Striano P,
Helbig I,
Rubboli G,
Mefford HC,
Møller RS
Epilepsia
2018 Feb;59(2):389-402.
Epub 2018 Jan 8
doi: 10.1111/epi.13986.
PMID: 29315614Free PMC Article
Therapy
Caraballo RH,
Reyes Valenzuela G,
Fortini S,
Espeche A,
Gamboni B,
Bautista C,
Cachia P,
Semprino M,
Gallo A,
Galicchio S
Epilepsy Behav
2022 Jun;131(Pt A):108702.
Epub 2022 May 5
doi: 10.1016/j.yebeh.2022.108702.
PMID: 35526461
Johannesen KM,
Gardella E,
Linnankivi T,
Courage C,
de Saint Martin A,
Lehesjoki AE,
Mignot C,
Afenjar A,
Lesca G,
Abi-Warde MT,
Chelly J,
Piton A,
Merritt JL 2nd,
Rodan LH,
Tan WH,
Bird LM,
Nespeca M,
Gleeson JG,
Yoo Y,
Choi M,
Chae JH,
Czapansky-Beilman D,
Reichert SC,
Pendziwiat M,
Verhoeven JS,
Schelhaas HJ,
Devinsky O,
Christensen J,
Specchio N,
Trivisano M,
Weber YG,
Nava C,
Keren B,
Doummar D,
Schaefer E,
Hopkins S,
Dubbs H,
Shaw JE,
Pisani L,
Myers CT,
Tang S,
Tang S,
Pal DK,
Millichap JJ,
Carvill GL,
Helbig KL,
Mecarelli O,
Striano P,
Helbig I,
Rubboli G,
Mefford HC,
Møller RS
Epilepsia
2018 Feb;59(2):389-402.
Epub 2018 Jan 8
doi: 10.1111/epi.13986.
PMID: 29315614Free PMC Article
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Prognosis
Tzartos J,
Pechlivanidou M,
Bosveli D,
Ninou E,
Yuceer H,
Yalcin B,
Kucukali CI,
Tuzun E,
Tzartos S,
Turkdogan D
In Vivo
2024 Jan-Feb;38(1):351-357.
doi: 10.21873/invivo.13445.
PMID: 38148071Free PMC Article
Mermer F,
Poliquin S,
Zhou S,
Wang X,
Ding Y,
Yin F,
Shen W,
Wang J,
Rigsby K,
Xu D,
Mack T,
Nwosu G,
Flamm C,
Stein M,
Kang JQ
Neurobiol Dis
2022 Oct 1;172:105810.
Epub 2022 Jul 14
doi: 10.1016/j.nbd.2022.105810.
PMID: 35840120Free PMC Article
Menon RN,
Nambiar PN,
Keni RR,
Baishya J,
Radhakrishnan A,
Cherian A,
Nampoothiri S,
Madhavilatha GK,
Kotecha UH,
Thomas SV
Neurol India
2021 Nov-Dec;69(6):1701-1705.
doi: 10.4103/0028-3886.333508.
PMID: 34979672
Breuillard D,
Jambaqué I,
Laschet J,
Nabbout R
Epilepsy Behav
2019 Oct;99:106482.
Epub 2019 Aug 25
doi: 10.1016/j.yebeh.2019.106482.
PMID: 31461681
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Clinical prediction guides
Mermer F,
Poliquin S,
Zhou S,
Wang X,
Ding Y,
Yin F,
Shen W,
Wang J,
Rigsby K,
Xu D,
Mack T,
Nwosu G,
Flamm C,
Stein M,
Kang JQ
Neurobiol Dis
2022 Oct 1;172:105810.
Epub 2022 Jul 14
doi: 10.1016/j.nbd.2022.105810.
PMID: 35840120Free PMC Article
Caraballo RH,
Reyes Valenzuela G,
Fortini S,
Espeche A,
Gamboni B,
Bautista C,
Cachia P,
Semprino M,
Gallo A,
Galicchio S
Epilepsy Behav
2022 Jun;131(Pt A):108702.
Epub 2022 May 5
doi: 10.1016/j.yebeh.2022.108702.
PMID: 35526461
Semino F,
Schröter J,
Willemsen MH,
Bast T,
Biskup S,
Beck-Woedl S,
Brennenstuhl H,
Schaaf CP,
Kölker S,
Hoffmann GF,
Haack TB,
Syrbe S
Hum Mutat
2021 Sep;42(9):1094-1100.
Epub 2021 Jul 5
doi: 10.1002/humu.24245.
PMID: 34157790
Breuillard D,
Jambaqué I,
Laschet J,
Nabbout R
Epilepsy Behav
2019 Oct;99:106482.
Epub 2019 Aug 25
doi: 10.1016/j.yebeh.2019.106482.
PMID: 31461681
Johannesen KM,
Gardella E,
Linnankivi T,
Courage C,
de Saint Martin A,
Lehesjoki AE,
Mignot C,
Afenjar A,
Lesca G,
Abi-Warde MT,
Chelly J,
Piton A,
Merritt JL 2nd,
Rodan LH,
Tan WH,
Bird LM,
Nespeca M,
Gleeson JG,
Yoo Y,
Choi M,
Chae JH,
Czapansky-Beilman D,
Reichert SC,
Pendziwiat M,
Verhoeven JS,
Schelhaas HJ,
Devinsky O,
Christensen J,
Specchio N,
Trivisano M,
Weber YG,
Nava C,
Keren B,
Doummar D,
Schaefer E,
Hopkins S,
Dubbs H,
Shaw JE,
Pisani L,
Myers CT,
Tang S,
Tang S,
Pal DK,
Millichap JJ,
Carvill GL,
Helbig KL,
Mecarelli O,
Striano P,
Helbig I,
Rubboli G,
Mefford HC,
Møller RS
Epilepsia
2018 Feb;59(2):389-402.
Epub 2018 Jan 8
doi: 10.1111/epi.13986.
PMID: 29315614Free PMC Article