Etiology
Novelli M,
Tolve M,
Quiroz V,
Carducci C,
Bove R,
Ricciardi G,
Yang K,
Manti F,
Pisani F,
Ebrahimi-Fakhari D,
Galosi S,
Leuzzi V
Mov Disord Clin Pract
2024 Sep;11(9):1072-1084.
Epub 2024 Jul 12
doi: 10.1002/mdc3.14157.
PMID: 39001623Free PMC Article
Whitney R,
Jain P,
RamachandranNair R,
Jones KC,
Kiani H,
Tarnopolsky M,
Meaney B
Epilepsia Open
2023 Jun;8(2):623-632.
Epub 2023 Apr 24
doi: 10.1002/epi4.12747.
PMID: 37067065Free PMC Article
Hill C,
Noureldein M,
Karkhanis P,
Kinning E,
Vijay S,
Gowda H
Am J Med Genet A
2023 Mar;191(3):859-863.
Epub 2022 Dec 20
doi: 10.1002/ajmg.a.63083.
PMID: 36538928
Sakakibara N,
Nozu K,
Yamamura T,
Horinouchi T,
Nagano C,
Ye MJ,
Ishiko S,
Aoto Y,
Rossanti R,
Hamada R,
Okamoto N,
Shima Y,
Nakanishi K,
Matsuo M,
Iijima K,
Morisada N
J Hum Genet
2022 Jul;67(7):427-440.
Epub 2022 Feb 9
doi: 10.1038/s10038-022-01020-5.
PMID: 35140360
Mutlu-Albayrak H,
Kırat E,
Gürbüz G
Neurogenetics
2020 Jan;21(1):59-66.
Epub 2019 Nov 19
doi: 10.1007/s10048-019-00597-y.
PMID: 31741144
Diagnosis
Horber V,
Andersen GL,
Arnaud C,
De La Cruz J,
Dakovic I,
Greitane A,
Hensey O,
Himmelmann K,
Hollody K,
Horridge K,
Künzle CT,
Marcelli M,
Ortibus E,
Papavasiliou A,
Perra O,
Platt MJ,
Rackauskaite G,
Sigurdardottir S,
Troha Gergeli A,
Virella D,
Krägeloh-Mann I,
Sellier E
Neurology
2023 Dec 12;101(24):e2509-e2521.
Epub 2023 Oct 19
doi: 10.1212/WNL.0000000000207851.
PMID: 37857495Free PMC Article
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Elhawary NA,
AlJahdali IA,
Abumansour IS,
Elhawary EN,
Gaboon N,
Dandini M,
Madkhali A,
Alosaimi W,
Alzahrani A,
Aljohani F,
Melibary EM,
Kensara OA
Hum Genomics
2022 Jul 19;16(1):22.
doi: 10.1186/s40246-022-00398-9.
PMID: 35854334Free PMC Article
Radenkovic S,
Martinelli D,
Zhang Y,
Preston GJ,
Maiorana A,
Terracciano A,
Dentici ML,
Pisaneschi E,
Novelli A,
Ranatunga W,
Ligezka AN,
Ghesquière B,
Deyle DR,
Kozicz T,
Pinto E Vairo F,
Witters P,
Morava E
Genet Med
2022 Apr;24(4):894-904.
Epub 2022 Jan 15
doi: 10.1016/j.gim.2021.12.012.
PMID: 35042660
Rashvand Z,
Kahrizi K,
Najmabadi H,
Najafipour R,
Omrani MD
J Gene Med
2022 Apr;24(4):e3406.
Epub 2022 Jan 31
doi: 10.1002/jgm.3406.
PMID: 34967075
Therapy
Liu S,
Zhang Y,
Deng Z,
He H,
Zheng X,
Hong Q,
Luo X
Int J Mol Sci
2023 Jun 16;24(12)
doi: 10.3390/ijms241210239.
PMID: 37373384Free PMC Article
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Elhawary NA,
AlJahdali IA,
Abumansour IS,
Elhawary EN,
Gaboon N,
Dandini M,
Madkhali A,
Alosaimi W,
Alzahrani A,
Aljohani F,
Melibary EM,
Kensara OA
Hum Genomics
2022 Jul 19;16(1):22.
doi: 10.1186/s40246-022-00398-9.
PMID: 35854334Free PMC Article
Rinat C,
Zoref-Shani E,
Ben-Neriah Z,
Bromberg Y,
Becker-Cohen R,
Feinstein S,
Sperling O,
Frishberg Y
Mol Genet Metab
2006 Mar;87(3):249-52.
Epub 2005 Dec 15
doi: 10.1016/j.ymgme.2005.09.025.
PMID: 16343967
Prognosis
Novelli M,
Tolve M,
Quiroz V,
Carducci C,
Bove R,
Ricciardi G,
Yang K,
Manti F,
Pisani F,
Ebrahimi-Fakhari D,
Galosi S,
Leuzzi V
Mov Disord Clin Pract
2024 Sep;11(9):1072-1084.
Epub 2024 Jul 12
doi: 10.1002/mdc3.14157.
PMID: 39001623Free PMC Article
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Batool T,
Irshad S,
Mahmood K
Braz J Biol
2021;83:e246040.
Epub 2021 Aug 6
doi: 10.1590/1519-6984.246040.
PMID: 34378666
Jiang C,
Gai N,
Zou Y,
Zheng Y,
Ma R,
Wei X,
Liang D,
Wu L
Clin Chim Acta
2017 Jan;464:24-29.
Epub 2016 Oct 28
doi: 10.1016/j.cca.2016.10.029.
PMID: 27983999
Iqbal Z,
Püttmann L,
Musante L,
Razzaq A,
Zahoor MY,
Hu H,
Wienker TF,
Garshasbi M,
Fattahi Z,
Gilissen C,
Vissers LE,
de Brouwer AP,
Veltman JA,
Pfundt R,
Najmabadi H,
Ropers HH,
Riazuddin S,
Kahrizi K,
van Bokhoven H
Eur J Hum Genet
2016 Mar;24(3):392-9.
Epub 2015 Jul 15
doi: 10.1038/ejhg.2015.148.
PMID: 26173967Free PMC Article
Clinical prediction guides
Whitney R,
Jain P,
RamachandranNair R,
Jones KC,
Kiani H,
Tarnopolsky M,
Meaney B
Epilepsia Open
2023 Jun;8(2):623-632.
Epub 2023 Apr 24
doi: 10.1002/epi4.12747.
PMID: 37067065Free PMC Article
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Iqbal Z,
Püttmann L,
Musante L,
Razzaq A,
Zahoor MY,
Hu H,
Wienker TF,
Garshasbi M,
Fattahi Z,
Gilissen C,
Vissers LE,
de Brouwer AP,
Veltman JA,
Pfundt R,
Najmabadi H,
Ropers HH,
Riazuddin S,
Kahrizi K,
van Bokhoven H
Eur J Hum Genet
2016 Mar;24(3):392-9.
Epub 2015 Jul 15
doi: 10.1038/ejhg.2015.148.
PMID: 26173967Free PMC Article
Goto M,
Okada M,
Komaki H,
Sugai K,
Sasaki M,
Noguchi S,
Nonaka I,
Nishino I,
Hayashi YK
Orphanet J Rare Dis
2014 Apr 23;9:58.
doi: 10.1186/1750-1172-9-58.
PMID: 24755310Free PMC Article