Etiology
Lopriore P,
Vista M,
Maritato P,
Caldarazzo Ienco E,
Bassani L,
Natale G,
Tessa A,
Santorelli FM,
Orsucci D
Neurol Sci
2024 Jun;45(6):2853-2857.
Epub 2024 Jan 23
doi: 10.1007/s10072-024-07331-z.
PMID: 38253744
Dubner SE,
Rickerich L,
Bruckert L,
Poblaciones RV,
Sproul D,
Scala M,
Feldman HM,
Travis KE
Pediatr Res
2024 Mar;95(4):1028-1034.
Epub 2023 Nov 29
doi: 10.1038/s41390-023-02903-9.
PMID: 38030826
Serpieri V,
D'Abrusco F,
Dempsey JC,
Cheng YH,
Arrigoni F,
Baker J,
Battini R,
Bertini ES,
Borgatti R,
Christman AK,
Curry C,
D'Arrigo S,
Fluss J,
Freilinger M,
Gana S,
Ishak GE,
Leuzzi V,
Loucks H,
Manti F,
Mendelsohn N,
Merlini L,
Miller CV,
Muhammad A,
Nuovo S,
Romaniello R,
Schmidt W,
Signorini S,
Siliquini S,
Szczałuba K,
Vasco G,
Wilson M,
Zanni G,
Boltshauser E,
Doherty D,
Valente EM;
University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet
2022 Sep;59(9):888-894.
Epub 2021 Oct 21
doi: 10.1136/jmedgenet-2021-108114.
PMID: 34675124Free PMC Article
Lee JM,
Choi YH,
Hong J,
Kim NY,
Kim EB,
Lim JS,
Kim JD,
Park HK,
Lee HJ
Neonatology
2019;116(2):163-170.
Epub 2019 May 21
doi: 10.1159/000499487.
PMID: 31112968
Romano S,
Boddaert N,
Desguerre I,
Hubert L,
Salomon R,
Seidenwurm D,
Bahi-Buisson N,
Nabbout R,
Sonigo P,
Lyonnet S,
Brunelle F,
Munnich A,
de Lonlay P
Neuropediatrics
2006 Feb;37(1):42-5.
doi: 10.1055/s-2006-923838.
PMID: 16541367
Diagnosis
Raghuveer K,
Dikkatwar V,
Joshi MV,
Shetty DS
BMJ Case Rep
2023 Nov 22;16(11)
doi: 10.1136/bcr-2022-253556.
PMID: 37993144Free PMC Article
Serpieri V,
D'Abrusco F,
Dempsey JC,
Cheng YH,
Arrigoni F,
Baker J,
Battini R,
Bertini ES,
Borgatti R,
Christman AK,
Curry C,
D'Arrigo S,
Fluss J,
Freilinger M,
Gana S,
Ishak GE,
Leuzzi V,
Loucks H,
Manti F,
Mendelsohn N,
Merlini L,
Miller CV,
Muhammad A,
Nuovo S,
Romaniello R,
Schmidt W,
Signorini S,
Siliquini S,
Szczałuba K,
Vasco G,
Wilson M,
Zanni G,
Boltshauser E,
Doherty D,
Valente EM;
University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet
2022 Sep;59(9):888-894.
Epub 2021 Oct 21
doi: 10.1136/jmedgenet-2021-108114.
PMID: 34675124Free PMC Article
Hwang M,
Park H,
Baek HJ,
Ryu KH,
Cho E,
Yoon S
Curr Med Imaging
2022;18(1):91-94.
doi: 10.2174/1573405617666210608155904.
PMID: 34102983
Ceschin R,
Zahner A,
Reynolds W,
Gaesser J,
Zuccoli G,
Lo CW,
Gopalakrishnan V,
Panigrahy A
Neuroimage
2018 Sep;178:183-197.
Epub 2018 May 21
doi: 10.1016/j.neuroimage.2018.05.049.
PMID: 29793060Free PMC Article
Maria BL,
Hoang KB,
Tusa RJ,
Mancuso AA,
Hamed LM,
Quisling RG,
Hove MT,
Fennell EB,
Booth-Jones M,
Ringdahl DM,
Yachnis AT,
Creel G,
Frerking B
J Child Neurol
1997 Oct;12(7):423-30.
doi: 10.1177/088307389701200703.
PMID: 9373798
Therapy
Maria BL,
Quisling RG,
Rosainz LC,
Yachnis AT,
Gitten J,
Dede D,
Fennell E
J Child Neurol
1999 Jun;14(6):368-76.
doi: 10.1177/088307389901400605.
PMID: 10385844
Prognosis
Raghuveer K,
Dikkatwar V,
Joshi MV,
Shetty DS
BMJ Case Rep
2023 Nov 22;16(11)
doi: 10.1136/bcr-2022-253556.
PMID: 37993144Free PMC Article
Serpieri V,
D'Abrusco F,
Dempsey JC,
Cheng YH,
Arrigoni F,
Baker J,
Battini R,
Bertini ES,
Borgatti R,
Christman AK,
Curry C,
D'Arrigo S,
Fluss J,
Freilinger M,
Gana S,
Ishak GE,
Leuzzi V,
Loucks H,
Manti F,
Mendelsohn N,
Merlini L,
Miller CV,
Muhammad A,
Nuovo S,
Romaniello R,
Schmidt W,
Signorini S,
Siliquini S,
Szczałuba K,
Vasco G,
Wilson M,
Zanni G,
Boltshauser E,
Doherty D,
Valente EM;
University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet
2022 Sep;59(9):888-894.
Epub 2021 Oct 21
doi: 10.1136/jmedgenet-2021-108114.
PMID: 34675124Free PMC Article
Okumura A,
Lee T,
Ikeno M,
Shimojima K,
Kajino K,
Inoue Y,
Yoshikawa N,
Suganuma H,
Suzuki M,
Hisata K,
Shoji H,
Takanashi J,
Barkovich AJ,
Shimizu T,
Yamamoto T,
Hayashi M
Brain Dev
2012 Nov;34(10):881-5.
Epub 2012 Apr 7
doi: 10.1016/j.braindev.2012.03.003.
PMID: 22483529
Bahi-Buisson N,
Poirier K,
Boddaert N,
Fallet-Bianco C,
Specchio N,
Bertini E,
Caglayan O,
Lascelles K,
Elie C,
Rambaud J,
Baulac M,
An I,
Dias P,
des Portes V,
Moutard ML,
Soufflet C,
El Maleh M,
Beldjord C,
Villard L,
Chelly J
Brain
2010 Nov;133(11):3194-209.
Epub 2010 Oct 7
doi: 10.1093/brain/awq259.
PMID: 20929962
Lee SK,
Kim DI,
Kim J,
Kim DJ,
Kim HD,
Kim DS,
Mori S
Radiographics
2005 Jan-Feb;25(1):53-65; discussion 66-8.
doi: 10.1148/rg.251045085.
PMID: 15653586
Clinical prediction guides
Siegert S,
Grisold A,
Pal-Handl K,
Lilja S,
Kepa S,
Silvaieh S,
Laccone F,
Wiest G,
Pogledic I,
Schmook MT,
Boltshauser E,
Schmidt WM,
Krenn M
Pediatr Neurol
2024 Nov;160:38-44.
Epub 2024 Jul 30
doi: 10.1016/j.pediatrneurol.2024.07.015.
PMID: 39181021
Serpieri V,
D'Abrusco F,
Dempsey JC,
Cheng YH,
Arrigoni F,
Baker J,
Battini R,
Bertini ES,
Borgatti R,
Christman AK,
Curry C,
D'Arrigo S,
Fluss J,
Freilinger M,
Gana S,
Ishak GE,
Leuzzi V,
Loucks H,
Manti F,
Mendelsohn N,
Merlini L,
Miller CV,
Muhammad A,
Nuovo S,
Romaniello R,
Schmidt W,
Signorini S,
Siliquini S,
Szczałuba K,
Vasco G,
Wilson M,
Zanni G,
Boltshauser E,
Doherty D,
Valente EM;
University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet
2022 Sep;59(9):888-894.
Epub 2021 Oct 21
doi: 10.1136/jmedgenet-2021-108114.
PMID: 34675124Free PMC Article
Bahi-Buisson N,
Poirier K,
Boddaert N,
Fallet-Bianco C,
Specchio N,
Bertini E,
Caglayan O,
Lascelles K,
Elie C,
Rambaud J,
Baulac M,
An I,
Dias P,
des Portes V,
Moutard ML,
Soufflet C,
El Maleh M,
Beldjord C,
Villard L,
Chelly J
Brain
2010 Nov;133(11):3194-209.
Epub 2010 Oct 7
doi: 10.1093/brain/awq259.
PMID: 20929962
Kumada S,
Tsuchiya K,
Takahashi M,
Takesue M,
Shiotsu H,
Nomura Y,
Segawa M,
Ikeda K,
Hayashi M
Acta Neuropathol
2000 Feb;99(2):209-13.
doi: 10.1007/pl00007426.
PMID: 10672329
Sztriha L,
Al-Gazali LI,
Aithala GR,
Nork M
Pediatr Neurol
1999 Apr;20(4):274-81.
doi: 10.1016/s0887-8994(98)00154-4.
PMID: 10328276