Etiology
Wang YQ,
Fang ZX,
Zhang YW,
Xie LL,
Jiang L
Seizure
2020 Oct;81:36-42.
Epub 2020 Jul 18
doi: 10.1016/j.seizure.2020.07.011.
PMID: 32712377
Bowser LE,
Young M,
Wenger OK,
Ammous Z,
Brigatti KW,
Carson VJ,
Moser T,
Deline J,
Aoki K,
Morlet T,
Scott EM,
Puffenberger EG,
Robinson DL,
Hendrickson C,
Salvin J,
Gottlieb S,
Heaps AD,
Tiemeyer M,
Strauss KA
Mol Genet Metab
2019 Apr;126(4):475-488.
Epub 2019 Jan 21
doi: 10.1016/j.ymgme.2019.01.013.
PMID: 30691927
O'Callaghan FJ,
Edwards SW,
Alber FD,
Hancock E,
Johnson AL,
Kennedy CR,
Likeman M,
Lux AL,
Mackay M,
Mallick AA,
Newton RW,
Nolan M,
Pressler R,
Rating D,
Schmitt B,
Verity CM,
Osborne JP;
participating investigators
Lancet Neurol
2017 Jan;16(1):33-42.
Epub 2016 Nov 10
doi: 10.1016/S1474-4422(16)30294-0.
PMID: 27838190
Wang H,
Wang A,
Wang D,
Bright A,
Sency V,
Zhou A,
Xin B
Clin Genet
2016 May;89(5):625-9.
Epub 2016 Jan 20
doi: 10.1111/cge.12703.
PMID: 26649472
Diagnosis
Dookwah M,
Wagner SK,
Ishihara M,
Yu SH,
Ulrichs H,
Kulik MJ,
Zeltner N,
Dalton S,
Strauss KA,
Aoki K,
Steet R,
Tiemeyer M
Hum Mol Genet
2023 Dec 1;32(24):3323-3341.
doi: 10.1093/hmg/ddad146.
PMID: 37676252Free PMC Article
Watanabe S,
Lei M,
Nakagawa E,
Takeshita E,
Inamori KI,
Shishido F,
Sasaki M,
Mitsuhashi S,
Matsumoto N,
Kimura Y,
Iwasaki M,
Takahashi Y,
Mizusawa H,
Migita O,
Ohno I,
Inokuchi JI
Brain Dev
2023 May;45(5):270-277.
Epub 2023 Jan 21
doi: 10.1016/j.braindev.2023.01.002.
PMID: 36690566
Inamori KI,
Inokuchi JI
Int J Mol Sci
2022 May 11;23(10)
doi: 10.3390/ijms23105368.
PMID: 35628171Free PMC Article
O'Callaghan FJ,
Edwards SW,
Alber FD,
Hancock E,
Johnson AL,
Kennedy CR,
Likeman M,
Lux AL,
Mackay M,
Mallick AA,
Newton RW,
Nolan M,
Pressler R,
Rating D,
Schmitt B,
Verity CM,
Osborne JP;
participating investigators
Lancet Neurol
2017 Jan;16(1):33-42.
Epub 2016 Nov 10
doi: 10.1016/S1474-4422(16)30294-0.
PMID: 27838190
Wang H,
Bright A,
Xin B,
Bockoven JR,
Paller AS
Am J Med Genet A
2013 Apr;161A(4):875-9.
Epub 2013 Feb 22
doi: 10.1002/ajmg.a.35826.
PMID: 23436467
Therapy
Yang H,
Brown RH Jr,
Wang D,
Strauss KA,
Gao G
Trends Mol Med
2021 Jun;27(6):520-523.
Epub 2021 Mar 10
doi: 10.1016/j.molmed.2021.02.004.
PMID: 33714697Free PMC Article
O'Callaghan FJ,
Edwards SW,
Alber FD,
Hancock E,
Johnson AL,
Kennedy CR,
Likeman M,
Lux AL,
Mackay M,
Mallick AA,
Newton RW,
Nolan M,
Pressler R,
Rating D,
Schmitt B,
Verity CM,
Osborne JP;
participating investigators
Lancet Neurol
2017 Jan;16(1):33-42.
Epub 2016 Nov 10
doi: 10.1016/S1474-4422(16)30294-0.
PMID: 27838190
Dalic L,
Mullen SA,
Roulet Perez E,
Scheffer I
Dev Med Child Neurol
2015 Feb;57(2):200-2.
Epub 2014 Sep 22
doi: 10.1111/dmcn.12593.
PMID: 25243660
Prognosis
Watanabe S,
Lei M,
Nakagawa E,
Takeshita E,
Inamori KI,
Shishido F,
Sasaki M,
Mitsuhashi S,
Matsumoto N,
Kimura Y,
Iwasaki M,
Takahashi Y,
Mizusawa H,
Migita O,
Ohno I,
Inokuchi JI
Brain Dev
2023 May;45(5):270-277.
Epub 2023 Jan 21
doi: 10.1016/j.braindev.2023.01.002.
PMID: 36690566
O'Callaghan FJ,
Edwards SW,
Alber FD,
Hancock E,
Johnson AL,
Kennedy CR,
Likeman M,
Lux AL,
Mackay M,
Mallick AA,
Newton RW,
Nolan M,
Pressler R,
Rating D,
Schmitt B,
Verity CM,
Osborne JP;
participating investigators
Lancet Neurol
2017 Jan;16(1):33-42.
Epub 2016 Nov 10
doi: 10.1016/S1474-4422(16)30294-0.
PMID: 27838190
Clinical prediction guides
Bowser LE,
Young M,
Wenger OK,
Ammous Z,
Brigatti KW,
Carson VJ,
Moser T,
Deline J,
Aoki K,
Morlet T,
Scott EM,
Puffenberger EG,
Robinson DL,
Hendrickson C,
Salvin J,
Gottlieb S,
Heaps AD,
Tiemeyer M,
Strauss KA
Mol Genet Metab
2019 Apr;126(4):475-488.
Epub 2019 Jan 21
doi: 10.1016/j.ymgme.2019.01.013.
PMID: 30691927
Inokuchi JI,
Go S,
Yoshikawa M,
Strauss K
Biochim Biophys Acta Gen Subj
2017 Oct;1861(10):2485-2493.
Epub 2017 May 30
doi: 10.1016/j.bbagen.2017.05.025.
PMID: 28571946
Fragaki K,
Ait-El-Mkadem S,
Chaussenot A,
Gire C,
Mengual R,
Bonesso L,
Bénéteau M,
Ricci JE,
Desquiret-Dumas V,
Procaccio V,
Rötig A,
Paquis-Flucklinger V
Eur J Hum Genet
2013 May;21(5):528-34.
Epub 2012 Sep 19
doi: 10.1038/ejhg.2012.202.
PMID: 22990144Free PMC Article