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
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Bonkowsky JL,
Wilkes J
J Child Neurol
2022 Apr;37(5):397-400.
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Mierlo PV,
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Pillen S
Neuropediatrics
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Merwick A,
O'Brien M,
Delanty N
Epilepsia
2012 Sep;53 Suppl 4:81-91.
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Dell'Amico MC,
Vivani P,
Miccoli M,
Cecconi M,
Baggiani A
Ann Ig
2011 Jan-Feb;23(1):71-9.
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Diagnosis
Bonkowsky JL,
Wilkes J
J Child Neurol
2022 Apr;37(5):397-400.
Epub 2022 Mar 3
doi: 10.1177/08830738221081141.
PMID: 35238239Free PMC Article
Mierlo PV,
Braakman H,
Vandenbussche N,
Schelhaas HJ,
Pillen S
Neuropediatrics
2022 Apr;53(2):109-114.
Epub 2021 Dec 21
doi: 10.1055/s-0041-1740551.
PMID: 34933379
Alsharhan H,
He M,
Edmondson AC,
Daniel EJP,
Chen J,
Donald T,
Bakhtiari S,
Amor DJ,
Jones EA,
Vassallo G,
Vincent M,
Cogné B,
Deb W,
Werners AH,
Jin SC,
Bilguvar K,
Christodoulou J,
Webster RI,
Yearwood KR,
Ng BG,
Freeze HH,
Kruer MC,
Li D,
Raymond KM,
Bhoj EJ,
Sobering AK
J Inherit Metab Dis
2021 Jul;44(4):1001-1012.
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de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
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Mehndiratta MM,
Rao KB,
Garg S,
Pandey S
J Assoc Physicians India
2005 Jun;53:562-3.
PMID: 16121813
Therapy
de Lange IM,
Helbig KL,
Weckhuysen S,
Møller RS,
Velinov M,
Dolzhanskaya N,
Marsh E,
Helbig I,
Devinsky O,
Tang S,
Mefford HC,
Myers CT,
van Paesschen W,
Striano P,
van Gassen K,
van Kempen M,
de Kovel CG,
Piard J,
Minassian BA,
Nezarati MM,
Pessoa A,
Jacquette A,
Maher B,
Balestrini S,
Sisodiya S,
Warde MT,
De St Martin A,
Chelly J;
EuroEPINOMICS-RES MAE working group,
van 't Slot R,
Van Maldergem L,
Brilstra EH,
Koeleman BP
J Med Genet
2016 Dec;53(12):850-858.
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da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
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da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2014 Jan 8;(1):CD008185.
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da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2011 Nov 9;(11):CD008185.
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Levin JH,
Kaler SG
Clin Genet
2007 Oct;72(4):345-50.
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PMID: 17850631
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
Alsharhan H,
He M,
Edmondson AC,
Daniel EJP,
Chen J,
Donald T,
Bakhtiari S,
Amor DJ,
Jones EA,
Vassallo G,
Vincent M,
Cogné B,
Deb W,
Werners AH,
Jin SC,
Bilguvar K,
Christodoulou J,
Webster RI,
Yearwood KR,
Ng BG,
Freeze HH,
Kruer MC,
Li D,
Raymond KM,
Bhoj EJ,
Sobering AK
J Inherit Metab Dis
2021 Jul;44(4):1001-1012.
Epub 2021 Mar 26
doi: 10.1002/jimd.12378.
PMID: 33734437Free PMC Article
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2016 Feb 5;2(2):CD008185.
doi: 10.1002/14651858.CD008185.pub4.
PMID: 26845288Free PMC Article
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978
Dell'Amico MC,
Vivani P,
Miccoli M,
Cecconi M,
Baggiani A
Ann Ig
2011 Jan-Feb;23(1):71-9.
PMID: 21736009
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
Faheem M,
Deneault E,
Alexandrova R,
Rodrigues DC,
Pellecchia G,
Shum C,
Zarrei M,
Piekna A,
Wei W,
Howe JL,
Thiruvahindrapuram B,
Lamoureux S,
Ross PJ,
Bradley CA,
Ellis J,
Scherer SW
BMC Med Genomics
2023 Jan 12;16(1):5.
doi: 10.1186/s12920-022-01425-3.
PMID: 36635662Free PMC Article
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2016 Feb 5;2(2):CD008185.
doi: 10.1002/14651858.CD008185.pub4.
PMID: 26845288Free PMC Article
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2014 Jan 8;(1):CD008185.
doi: 10.1002/14651858.CD008185.pub3.
PMID: 24399699
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978