Etiology
Leyne E,
Anselem O,
Jordan P,
Vivanti AJ,
Benachi A,
Salomon L,
Jacquier M,
Jouannic JM,
Dhombres F,
Cambier T,
Rosenblatt J,
Pannier E,
Goffinet F,
Tsatsaris V,
Athiel Y
Acta Obstet Gynecol Scand
2024 Jan;103(1):51-58.
Epub 2023 Nov 9
doi: 10.1111/aogs.14716.
PMID: 37942915Free PMC Article
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Bayrak H,
Yıldız Y,
Olgaç A,
Kasapkara ÇS,
Küçükcongar A,
Zenciroğlu A,
Yüksel D,
Ceylaner S,
Kılıç M
Metab Brain Dis
2021 Aug;36(6):1213-1222.
Epub 2021 Apr 1
doi: 10.1007/s11011-021-00718-3.
PMID: 33791923
Mercimek-Mahmutoglu S,
Patel J,
Cordeiro D,
Hewson S,
Callen D,
Donner EJ,
Hahn CD,
Kannu P,
Kobayashi J,
Minassian BA,
Moharir M,
Siriwardena K,
Weiss SK,
Weksberg R,
Snead OC 3rd
Epilepsia
2015 May;56(5):707-16.
Epub 2015 Mar 25
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PMID: 25818041
Schiffmann R,
Kaye EM,
Willis JK 3rd,
Africk D,
Ampola M
Ann Neurol
1989 Feb;25(2):201-3.
doi: 10.1002/ana.410250218.
PMID: 2919871
Diagnosis
Leyne E,
Anselem O,
Jordan P,
Vivanti AJ,
Benachi A,
Salomon L,
Jacquier M,
Jouannic JM,
Dhombres F,
Cambier T,
Rosenblatt J,
Pannier E,
Goffinet F,
Tsatsaris V,
Athiel Y
Acta Obstet Gynecol Scand
2024 Jan;103(1):51-58.
Epub 2023 Nov 9
doi: 10.1111/aogs.14716.
PMID: 37942915Free PMC Article
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Bayrak H,
Yıldız Y,
Olgaç A,
Kasapkara ÇS,
Küçükcongar A,
Zenciroğlu A,
Yüksel D,
Ceylaner S,
Kılıç M
Metab Brain Dis
2021 Aug;36(6):1213-1222.
Epub 2021 Apr 1
doi: 10.1007/s11011-021-00718-3.
PMID: 33791923
Nasrallah F,
Hadj-Taieb S,
Chehida AB,
Jelassi A,
Ben Massoued S,
Charfi M,
Zidi W,
Amri F,
Helel KB,
Mejaoual H,
Seboui H,
Mahdhaoui N,
Gargouri A,
Monastiri K,
Turki I,
Cheour M,
Sanhaji H,
Tebib N,
Feki M,
Kaabachi N
Neuropediatrics
2020 Oct;51(5):349-353.
Epub 2020 Aug 20
doi: 10.1055/s-0040-1712489.
PMID: 32818969
Dinopoulos A,
Matsubara Y,
Kure S
Mol Genet Metab
2005 Sep-Oct;86(1-2):61-9.
doi: 10.1016/j.ymgme.2005.07.016.
PMID: 16157495
Therapy
Mullier B,
Wolff C,
Sands ZA,
Ghisdal P,
Muglia P,
Kaminski RM,
André VM
Neuropharmacology
2017 Sep 1;123:322-331.
Epub 2017 May 19
doi: 10.1016/j.neuropharm.2017.05.017.
PMID: 28533163
Li D,
Yuan H,
Ortiz-Gonzalez XR,
Marsh ED,
Tian L,
McCormick EM,
Kosobucki GJ,
Chen W,
Schulien AJ,
Chiavacci R,
Tankovic A,
Naase C,
Brueckner F,
von Stülpnagel-Steinbeis C,
Hu C,
Kusumoto H,
Hedrich UB,
Elsen G,
Hörtnagel K,
Aizenman E,
Lemke JR,
Hakonarson H,
Traynelis SF,
Falk MJ
Am J Hum Genet
2016 Oct 6;99(4):802-816.
Epub 2016 Sep 8
doi: 10.1016/j.ajhg.2016.07.013.
PMID: 27616483Free PMC Article
Devinsky O,
Cilio MR,
Cross H,
Fernandez-Ruiz J,
French J,
Hill C,
Katz R,
Di Marzo V,
Jutras-Aswad D,
Notcutt WG,
Martinez-Orgado J,
Robson PJ,
Rohrback BG,
Thiele E,
Whalley B,
Friedman D
Epilepsia
2014 Jun;55(6):791-802.
Epub 2014 May 22
doi: 10.1111/epi.12631.
PMID: 24854329Free PMC Article
Tekgul H,
Serdaroğlu G,
Karapinar B,
Polat M,
Yurtsever S,
Tosun A,
Coker M,
Gokben S
J Child Neurol
2006 Jan;21(1):82-4.
doi: 10.1177/08830738060210011801.
PMID: 16551461
Chen PT,
Young C,
Lee WT,
Wang PJ,
Peng SS,
Shen YZ
Brain Dev
2001 Nov;23(7):715-20.
doi: 10.1016/s0387-7604(01)00285-6.
PMID: 11701284
Prognosis
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Bayrak H,
Yıldız Y,
Olgaç A,
Kasapkara ÇS,
Küçükcongar A,
Zenciroğlu A,
Yüksel D,
Ceylaner S,
Kılıç M
Metab Brain Dis
2021 Aug;36(6):1213-1222.
Epub 2021 Apr 1
doi: 10.1007/s11011-021-00718-3.
PMID: 33791923
Nasrallah F,
Hadj-Taieb S,
Chehida AB,
Jelassi A,
Ben Massoued S,
Charfi M,
Zidi W,
Amri F,
Helel KB,
Mejaoual H,
Seboui H,
Mahdhaoui N,
Gargouri A,
Monastiri K,
Turki I,
Cheour M,
Sanhaji H,
Tebib N,
Feki M,
Kaabachi N
Neuropediatrics
2020 Oct;51(5):349-353.
Epub 2020 Aug 20
doi: 10.1055/s-0040-1712489.
PMID: 32818969
Dinopoulos A,
Matsubara Y,
Kure S
Mol Genet Metab
2005 Sep-Oct;86(1-2):61-9.
doi: 10.1016/j.ymgme.2005.07.016.
PMID: 16157495
Schiffmann R,
Kaye EM,
Willis JK 3rd,
Africk D,
Ampola M
Ann Neurol
1989 Feb;25(2):201-3.
doi: 10.1002/ana.410250218.
PMID: 2919871
Clinical prediction guides
Leyne E,
Anselem O,
Jordan P,
Vivanti AJ,
Benachi A,
Salomon L,
Jacquier M,
Jouannic JM,
Dhombres F,
Cambier T,
Rosenblatt J,
Pannier E,
Goffinet F,
Tsatsaris V,
Athiel Y
Acta Obstet Gynecol Scand
2024 Jan;103(1):51-58.
Epub 2023 Nov 9
doi: 10.1111/aogs.14716.
PMID: 37942915Free PMC Article
Wongkittichote P,
Chhay C,
Zerafati-Jahromi G,
Weisenberg JL,
Mian A,
Jensen LT,
Grange DK
Mol Genet Metab
2023 Mar;138(3):107373.
Epub 2023 Jan 7
doi: 10.1016/j.ymgme.2023.107373.
PMID: 36680912
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Khraim W,
Abu-Libdeh B,
Ayesh S,
Dweikat I
Brain Dev
2017 Aug;39(7):601-605.
Epub 2017 Mar 18
doi: 10.1016/j.braindev.2017.03.005.
PMID: 28325525
Dinopoulos A,
Matsubara Y,
Kure S
Mol Genet Metab
2005 Sep-Oct;86(1-2):61-9.
doi: 10.1016/j.ymgme.2005.07.016.
PMID: 16157495