Etiology
Nakamura A,
Matsumura T,
Ogata K,
Mori-Yoshimura M,
Takeshita E,
Kimura K,
Kawashima T,
Tomo Y,
Arahata H,
Miyazaki D,
Takeshima Y,
Takahashi T,
Ishigaki K,
Kuru S,
Wakisaka A,
Awano H,
Funato M,
Sato T,
Saito Y,
Takada H,
Sugie K,
Kobayashi M,
Ozasa S,
Fujii T,
Maegaki Y,
Oi H,
Tachimori H,
Komaki H
Ann Clin Transl Neurol
2023 Dec;10(12):2360-2372.
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Anazi S,
Maddirevula S,
Faqeih E,
Alsedairy H,
Alzahrani F,
Shamseldin HE,
Patel N,
Hashem M,
Ibrahim N,
Abdulwahab F,
Ewida N,
Alsaif HS,
Al Sharif H,
Alamoudi W,
Kentab A,
Bashiri FA,
Alnaser M,
AlWadei AH,
Alfadhel M,
Eyaid W,
Hashem A,
Al Asmari A,
Saleh MM,
AlSaman A,
Alhasan KA,
Alsughayir M,
Al Shammari M,
Mahmoud A,
Al-Hassnan ZN,
Al-Husain M,
Osama Khalil R,
Abd El Meguid N,
Masri A,
Ali R,
Ben-Omran T,
El Fishway P,
Hashish A,
Ercan Sencicek A,
State M,
Alazami AM,
Salih MA,
Altassan N,
Arold ST,
Abouelhoda M,
Wakil SM,
Monies D,
Shaheen R,
Alkuraya FS
Mol Psychiatry
2017 Apr;22(4):615-624.
Epub 2016 Jul 19
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Merwick A,
O'Brien M,
Delanty N
Epilepsia
2012 Sep;53 Suppl 4:81-91.
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Lubs HA,
Stevenson RE,
Schwartz CE
Am J Hum Genet
2012 Apr 6;90(4):579-90.
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Shimozawa N,
Honda A,
Kajiwara N,
Kozawa S,
Nagase T,
Takemoto Y,
Suzuki Y
J Hum Genet
2011 Feb;56(2):106-9.
Epub 2010 Nov 11
doi: 10.1038/jhg.2010.139.
PMID: 21068741
Diagnosis
Nagarajan B,
Gowda VK,
Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
Srinivasan VM,
Suthar R,
Thomas M,
Vyas S,
Sankhyan N,
Sahu JK
Epilepsia Open
2023 Dec;8(4):1383-1404.
Epub 2023 Aug 25
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Zhai Y,
Miao J,
Peng Y,
Wang Y,
Dong J,
Zhao X
Trends Cardiovasc Med
2023 Feb;33(2):81-89.
Epub 2021 Nov 2
doi: 10.1016/j.tcm.2021.10.012.
PMID: 34737089
Anazi S,
Maddirevula S,
Faqeih E,
Alsedairy H,
Alzahrani F,
Shamseldin HE,
Patel N,
Hashem M,
Ibrahim N,
Abdulwahab F,
Ewida N,
Alsaif HS,
Al Sharif H,
Alamoudi W,
Kentab A,
Bashiri FA,
Alnaser M,
AlWadei AH,
Alfadhel M,
Eyaid W,
Hashem A,
Al Asmari A,
Saleh MM,
AlSaman A,
Alhasan KA,
Alsughayir M,
Al Shammari M,
Mahmoud A,
Al-Hassnan ZN,
Al-Husain M,
Osama Khalil R,
Abd El Meguid N,
Masri A,
Ali R,
Ben-Omran T,
El Fishway P,
Hashish A,
Ercan Sencicek A,
State M,
Alazami AM,
Salih MA,
Altassan N,
Arold ST,
Abouelhoda M,
Wakil SM,
Monies D,
Shaheen R,
Alkuraya FS
Mol Psychiatry
2017 Apr;22(4):615-624.
Epub 2016 Jul 19
doi: 10.1038/mp.2016.113.
PMID: 27431290
Lubs HA,
Stevenson RE,
Schwartz CE
Am J Hum Genet
2012 Apr 6;90(4):579-90.
doi: 10.1016/j.ajhg.2012.02.018.
PMID: 22482801Free PMC Article
Shimozawa N,
Honda A,
Kajiwara N,
Kozawa S,
Nagase T,
Takemoto Y,
Suzuki Y
J Hum Genet
2011 Feb;56(2):106-9.
Epub 2010 Nov 11
doi: 10.1038/jhg.2010.139.
PMID: 21068741
Therapy
Mabondzo A,
van de Kamp J,
Mercimek-Andrews S
Cell Mol Life Sci
2024 Apr 17;81(1):186.
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PMID: 38632116Free PMC Article
Zhai Y,
Miao J,
Peng Y,
Wang Y,
Dong J,
Zhao X
Trends Cardiovasc Med
2023 Feb;33(2):81-89.
Epub 2021 Nov 2
doi: 10.1016/j.tcm.2021.10.012.
PMID: 34737089
Ahmed MA,
Kartha RV,
Brundage RC,
Cloyd J,
Basu C,
Carlin BP,
Jones RO,
Moser AB,
Fatemi A,
Raymond GV
Br J Clin Pharmacol
2016 Jun;81(6):1058-66.
Epub 2016 Apr 3
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Presson AP,
Kim N,
Xiaofei Y,
Chen IS,
Kim S
BMC Bioinformatics
2011 Sep 14;12:367.
doi: 10.1186/1471-2105-12-367.
PMID: 21914224Free PMC Article
Renieri A,
Meloni I,
Longo I,
Ariani F,
Mari F,
Pescucci C,
Cambi F
J Mol Med (Berl)
2003 Jun;81(6):346-54.
Epub 2003 May 16
doi: 10.1007/s00109-003-0444-9.
PMID: 12750821
Prognosis
Nakamura A,
Matsumura T,
Ogata K,
Mori-Yoshimura M,
Takeshita E,
Kimura K,
Kawashima T,
Tomo Y,
Arahata H,
Miyazaki D,
Takeshima Y,
Takahashi T,
Ishigaki K,
Kuru S,
Wakisaka A,
Awano H,
Funato M,
Sato T,
Saito Y,
Takada H,
Sugie K,
Kobayashi M,
Ozasa S,
Fujii T,
Maegaki Y,
Oi H,
Tachimori H,
Komaki H
Ann Clin Transl Neurol
2023 Dec;10(12):2360-2372.
Epub 2023 Oct 26
doi: 10.1002/acn3.51925.
PMID: 37882106Free PMC Article
Kumar A,
Kumar V,
Arora M,
Kumar M,
Ammalli P,
Thakur B,
Prasad J,
Kumari S,
Sharma MC,
Kale SS,
Chauhan SS
Biosci Rep
2022 Apr 29;42(4)
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PMID: 35297481Free PMC Article
Lin L,
Zhang Y,
Pan H,
Wang J,
Qi Y,
Ma Y
Orphanet J Rare Dis
2020 Nov 11;15(1):317.
doi: 10.1186/s13023-020-01599-y.
PMID: 33176815Free PMC Article
Presson AP,
Kim N,
Xiaofei Y,
Chen IS,
Kim S
BMC Bioinformatics
2011 Sep 14;12:367.
doi: 10.1186/1471-2105-12-367.
PMID: 21914224Free PMC Article
Shimozawa N,
Honda A,
Kajiwara N,
Kozawa S,
Nagase T,
Takemoto Y,
Suzuki Y
J Hum Genet
2011 Feb;56(2):106-9.
Epub 2010 Nov 11
doi: 10.1038/jhg.2010.139.
PMID: 21068741
Clinical prediction guides
Nakamura A,
Matsumura T,
Ogata K,
Mori-Yoshimura M,
Takeshita E,
Kimura K,
Kawashima T,
Tomo Y,
Arahata H,
Miyazaki D,
Takeshima Y,
Takahashi T,
Ishigaki K,
Kuru S,
Wakisaka A,
Awano H,
Funato M,
Sato T,
Saito Y,
Takada H,
Sugie K,
Kobayashi M,
Ozasa S,
Fujii T,
Maegaki Y,
Oi H,
Tachimori H,
Komaki H
Ann Clin Transl Neurol
2023 Dec;10(12):2360-2372.
Epub 2023 Oct 26
doi: 10.1002/acn3.51925.
PMID: 37882106Free PMC Article
Nagarajan B,
Gowda VK,
Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
Srinivasan VM,
Suthar R,
Thomas M,
Vyas S,
Sankhyan N,
Sahu JK
Epilepsia Open
2023 Dec;8(4):1383-1404.
Epub 2023 Aug 25
doi: 10.1002/epi4.12811.
PMID: 37583270Free PMC Article
Buermans NJML,
van den Bosch SJG,
Huffnagel IC,
Steenweg ME,
Engelen M,
Oostrom KJ,
Geurtsen GJ
Orphanet J Rare Dis
2019 Sep 14;14(1):217.
doi: 10.1186/s13023-019-1184-4.
PMID: 31521182Free PMC Article
Filosa S,
Pecorelli A,
D'Esposito M,
Valacchi G,
Hajek J
Free Radic Biol Med
2015 Nov;88(Pt A):81-90.
Epub 2015 May 8
doi: 10.1016/j.freeradbiomed.2015.04.019.
PMID: 25960047
Michelakakis H,
Kariyannis C,
Moraitou M,
Dimitriou E,
Sarafidou J,
Papassotiriou I
J Inherit Metab Dis
2007 Oct;30(5):822.
Epub 2007 Aug 20
doi: 10.1007/s10545-007-0640-9.
PMID: 17705023