Etiology
Kolbjer S,
Martin DA,
Pettersson M,
Dahlin M,
Anderlid BM
Eur J Paediatr Neurol
2021 Jan;30:71-81.
Epub 2021 Jan 8
doi: 10.1016/j.ejpn.2020.12.011.
PMID: 33453472
van Reeuwijk J,
Brunner HG,
van Bokhoven H
Clin Genet
2005 Apr;67(4):281-9.
doi: 10.1111/j.1399-0004.2004.00368.x.
PMID: 15733261
Nabi NU,
Mezer E,
Blaser SI,
Levin AA,
Buncic JR
J AAPOS
2003 Jun;7(3):178-84.
doi: 10.1016/s1091-8531(02)42005-8.
PMID: 12825057
Miny P,
Holzgreve W,
Horst J
Childs Nerv Syst
1993 Nov;9(7):413-7.
doi: 10.1007/BF00306195.
PMID: 8306358
Jellinger K
Brain Dev
1987;9(4):349-57.
doi: 10.1016/s0387-7604(87)80106-7.
PMID: 3324792
Diagnosis
Liu M,
Liu X,
Wu J,
Sha J,
Zhai J,
Zhang B
Medicine (Baltimore)
2023 Feb 17;102(7):e33014.
doi: 10.1097/MD.0000000000033014.
PMID: 36800618Free PMC Article
Göbel T,
Berninger L,
Schlump A,
Feige B,
Runge K,
Nickel K,
Schiele MA,
van Elst LT,
Hotz A,
Alter S,
Domschke K,
Tzschach A,
Endres D
J Neural Transm (Vienna)
2022 Nov;129(11):1387-1391.
Epub 2022 Oct 7
doi: 10.1007/s00702-022-02544-y.
PMID: 36205783Free PMC Article
Yang H,
Song D,
Liu Y,
Chen X,
Zhu Y,
Wei C,
Fu X,
Liu X,
Yang Z,
Xiong H
Seizure
2022 Oct;101:39-47.
Epub 2022 Jul 13
doi: 10.1016/j.seizure.2022.07.008.
PMID: 35863218
Friocourt G,
Marcorelles P,
Saugier-Veber P,
Quille ML,
Marret S,
Laquerrière A
Acta Neuropathol
2011 Feb;121(2):149-70.
Epub 2010 Nov 3
doi: 10.1007/s00401-010-0768-9.
PMID: 21046408Free PMC Article
Dobyns WB,
Reiner O,
Carrozzo R,
Ledbetter DH
JAMA
1993 Dec 15;270(23):2838-42.
doi: 10.1001/jama.270.23.2838.
PMID: 7907669
Therapy
Blayney GV,
Laffan E,
Jacob PA,
Baptiste CD,
Gabriel H,
Sparks TN,
Yaron Y,
Norton ME,
Diderich K,
Wang Y,
Chong K,
Chitayat D,
Saini N,
Aggarwal S,
Pauta M,
Borrell A,
Gilmore K,
Chandler NJ,
Allen S,
Vora N,
Noor A,
Monaghan C,
Kilby MD,
Wapner RJ,
Chitty LS,
Mone F
Prenat Diagn
2024 Apr;44(4):422-431.
Epub 2023 Dec 6
doi: 10.1002/pd.6466.
PMID: 38054560Free PMC Article
Kolbjer S,
Martin DA,
Pettersson M,
Dahlin M,
Anderlid BM
Eur J Paediatr Neurol
2021 Jan;30:71-81.
Epub 2021 Jan 8
doi: 10.1016/j.ejpn.2020.12.011.
PMID: 33453472
Murphy LB,
Schreiber-Katz O,
Rafferty K,
Robertson A,
Topf A,
Willis TA,
Heidemann M,
Thiele S,
Bindoff L,
Laurent JP,
Lochmüller H,
Mathews K,
Mitchell C,
Stevenson JH,
Vissing J,
Woods L,
Walter MC,
Straub V
Ann Clin Transl Neurol
2020 May;7(5):757-766.
Epub 2020 Apr 28
doi: 10.1002/acn3.51042.
PMID: 32342672Free PMC Article
Thammongkol S,
Vears DF,
Bicknell-Royle J,
Nation J,
Draffin K,
Stewart KG,
Scheffer IE,
Mackay MT
Epilepsia
2012 Mar;53(3):e55-9.
Epub 2012 Feb 6
doi: 10.1111/j.1528-1167.2011.03394.x.
PMID: 22310062
de Rijk-van Andel JF,
Arts WF,
Barth PG,
Loonen MC
Dev Med Child Neurol
1990 Aug;32(8):707-17.
doi: 10.1111/j.1469-8749.1990.tb08431.x.
PMID: 2210085
Prognosis
Kolbjer S,
Martin DA,
Pettersson M,
Dahlin M,
Anderlid BM
Eur J Paediatr Neurol
2021 Jan;30:71-81.
Epub 2021 Jan 8
doi: 10.1016/j.ejpn.2020.12.011.
PMID: 33453472
Saillour Y,
Carion N,
Quelin C,
Leger PL,
Boddaert N,
Elie C,
Toutain A,
Mercier S,
Barthez MA,
Milh M,
Joriot S,
des Portes V,
Philip N,
Broglin D,
Roubertie A,
Pitelet G,
Moutard ML,
Pinard JM,
Cances C,
Kaminska A,
Chelly J,
Beldjord C,
Bahi-Buisson N
Arch Neurol
2009 Aug;66(8):1007-15.
doi: 10.1001/archneurol.2009.149.
PMID: 19667223
Kato M,
Dobyns WB
Hum Mol Genet
2003 Apr 1;12 Spec No 1:R89-96.
doi: 10.1093/hmg/ddg086.
PMID: 12668601
Cardoso C,
Leventer RJ,
Matsumoto N,
Kuc JA,
Ramocki MB,
Mewborn SK,
Dudlicek LL,
May LF,
Mills PL,
Das S,
Pilz DT,
Dobyns WB,
Ledbetter DH
Hum Mol Genet
2000 Dec 12;9(20):3019-28.
doi: 10.1093/hmg/9.20.3019.
PMID: 11115846
Mori K,
Shimada J,
Kurisaka M,
Sato K,
Watanabe K
Brain Dev
1995 Sep-Oct;17(5):338-48.
doi: 10.1016/0387-7604(95)00070-r.
PMID: 8579221
Clinical prediction guides
Kolbjer S,
Martin DA,
Pettersson M,
Dahlin M,
Anderlid BM
Eur J Paediatr Neurol
2021 Jan;30:71-81.
Epub 2021 Jan 8
doi: 10.1016/j.ejpn.2020.12.011.
PMID: 33453472
Murphy LB,
Schreiber-Katz O,
Rafferty K,
Robertson A,
Topf A,
Willis TA,
Heidemann M,
Thiele S,
Bindoff L,
Laurent JP,
Lochmüller H,
Mathews K,
Mitchell C,
Stevenson JH,
Vissing J,
Woods L,
Walter MC,
Straub V
Ann Clin Transl Neurol
2020 May;7(5):757-766.
Epub 2020 Apr 28
doi: 10.1002/acn3.51042.
PMID: 32342672Free PMC Article
Nabi NU,
Mezer E,
Blaser SI,
Levin AA,
Buncic JR
J AAPOS
2003 Jun;7(3):178-84.
doi: 10.1016/s1091-8531(02)42005-8.
PMID: 12825057
Kato M,
Dobyns WB
Hum Mol Genet
2003 Apr 1;12 Spec No 1:R89-96.
doi: 10.1093/hmg/ddg086.
PMID: 12668601
Jellinger K
Brain Dev
1987;9(4):349-57.
doi: 10.1016/s0387-7604(87)80106-7.
PMID: 3324792