Etiology
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Blackburn PR,
Schultz MJ,
Lahner CA,
Li D,
Bhoj E,
Fisher LJ,
Renaud DL,
Kenney A,
Ibrahim N,
Hashem M,
Zain Seidahmed M,
Hasadsri L,
Schrier Vergano SA,
Alkuraya FS,
Lanpher BC
Ann Clin Transl Neurol
2020 Jun;7(6):1013-1028.
Epub 2020 Jun 9
doi: 10.1002/acn3.51074.
PMID: 32519519Free PMC Article
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Jurecka A,
Jurkiewicz E,
Tylki-Szymanska A
Eur J Pediatr
2012 Jan;171(1):131-8.
Epub 2011 May 31
doi: 10.1007/s00431-011-1503-9.
PMID: 21625931
Diagnosis
Alvarez C,
Grimmel M,
Ebrahimi-Fakhari D,
Paul VG,
Deininger N,
Riess A,
Haack T,
Gardella E,
Møller RS,
Bayat A
Clin Genet
2023 May;103(5):566-573.
Epub 2023 Jan 11
doi: 10.1111/cge.14275.
PMID: 36453471
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Kunii M,
Doi H,
Hashiguchi S,
Matsuishi T,
Sakai Y,
Iai M,
Okubo M,
Nakamura H,
Takahashi K,
Katsumoto A,
Tada M,
Takeuchi H,
Ishikawa T,
Miyake N,
Saitsu H,
Matsumoto N,
Tanaka F
J Neurol Sci
2020 Sep 15;416:117047.
Epub 2020 Jul 17
doi: 10.1016/j.jns.2020.117047.
PMID: 32736238
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Therapy
Zhang C,
Deng X,
Wen Y,
He F,
Yin F,
Peng J
BMC Med Genet
2020 Nov 26;21(1):235.
doi: 10.1186/s12881-020-01162-3.
PMID: 33243190Free PMC Article
García Segarra N,
Gautschi I,
Mittaz-Crettol L,
Kallay Zetchi C,
Al-Qusairi L,
Van Bemmelen MX,
Maeder P,
Bonafé L,
Schild L,
Roulet-Perez E
J Neurol Sci
2014 Jul 15;342(1-2):69-78.
Epub 2014 Apr 27
doi: 10.1016/j.jns.2014.04.027.
PMID: 24836863
Lamperti C,
Naini A,
Hirano M,
De Vivo DC,
Bertini E,
Servidei S,
Valeriani M,
Lynch D,
Banwell B,
Berg M,
Dubrovsky T,
Chiriboga C,
Angelini C,
Pegoraro E,
DiMauro S
Neurology
2003 Apr 8;60(7):1206-8.
doi: 10.1212/01.wnl.0000055089.39373.fc.
PMID: 12682339
Al-Essa MA,
Bakheet SM,
Patay ZJ,
Powe JE,
Ozand PT
Brain Dev
2000 Mar;22(2):127-31.
doi: 10.1016/s0387-7604(99)00121-7.
PMID: 10722966
Vossler DG,
Lee JK,
Ko TS
J Child Neurol
1999 May;14(5):282-8.
doi: 10.1177/088307389901400503.
PMID: 10342594
Prognosis
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Van Bergen NJ,
Guo Y,
Al-Deri N,
Lipatova Z,
Stanga D,
Zhao S,
Murtazina R,
Gyurkovska V,
Pehlivan D,
Mitani T,
Gezdirici A,
Antony J,
Collins F,
Willis MJH,
Coban Akdemir ZH,
Liu P,
Punetha J,
Hunter JV,
Jhangiani SN,
Fatih JM,
Rosenfeld JA,
Posey JE,
Gibbs RA,
Karaca E,
Massey S,
Ranasinghe TG,
Sleiman P,
Troedson C,
Lupski JR,
Sacher M,
Segev N,
Hakonarson H,
Christodoulou J
Brain
2020 Jan 1;143(1):112-130.
doi: 10.1093/brain/awz374.
PMID: 31794024Free PMC Article
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Freeze HH,
Eklund EA,
Ng BG,
Patterson MC
Lancet Neurol
2012 May;11(5):453-66.
doi: 10.1016/S1474-4422(12)70040-6.
PMID: 22516080Free PMC Article
Clinical prediction guides
Ramadesikan S,
Hickey S,
De Los Reyes E,
Patel AD,
Franklin SJ,
Brennan P,
Crist E,
Lee K,
White P,
McBride KL,
Koboldt DC,
Wilson RK
Cold Spring Harb Mol Case Stud
2022 Feb;8(2)
Epub 2022 Mar 24
doi: 10.1101/mcs.a006165.
PMID: 35091508Free PMC Article
Majethia P,
Do Rosario MC,
Kaur P,
Karanvir,
Shankar R,
Sharma S,
Siddiqui S,
Shukla A
Ann Hum Genet
2022 Mar;86(2):94-101.
Epub 2021 Dec 8
doi: 10.1111/ahg.12452.
PMID: 34878169Free PMC Article
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Wang J,
Rousseau J,
Kim E,
Ehresmann S,
Cheng YT,
Duraine L,
Zuo Z,
Park YJ,
Li-Kroeger D,
Bi W,
Wong LJ,
Rosenfeld J,
Gleeson J,
Faqeih E,
Alkuraya FS,
Wierenga KJ,
Chen J,
Afenjar A,
Nava C,
Doummar D,
Keren B,
Juusola J,
Grompe M,
Bellen HJ,
Campeau PM
Am J Hum Genet
2019 Dec 5;105(6):1237-1253.
Epub 2019 Nov 27
doi: 10.1016/j.ajhg.2019.11.002.
PMID: 31785787Free PMC Article
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090