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Items: 1 to 20 of 117

1.

[Genetic causes of infantile spasms--a systematic review].

Hansen LK, Ousager LB, Møller RS, Uldall PV, Hjalgrim H.

Ugeskr Laeger. 2012 Apr 23;174(17):1152-5. Review. Danish.

PMID:
22533931
2.

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Héron D.

Epilepsia. 2011 Oct;52(10):1820-7. doi: 10.1111/j.1528-1167.2011.03163.x. Epub 2011 Jul 18.

3.

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J.

Epilepsia. 2009 Nov;50(11):2501-3. doi: 10.1111/j.1528-1167.2009.02189.x. No abstract available.

4.

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.

Röthlisberger B, Hoigné I, Huber AR, Brunschwiler W, Capone Mori A.

Am J Med Genet A. 2010 Feb;152A(2):434-7. doi: 10.1002/ajmg.a.33220.

PMID:
20101691
5.

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.

Epilepsia. 2010 Apr;51(4):647-54. doi: 10.1111/j.1528-1167.2009.02308.x. Epub 2009 Sep 22.

6.

A genetic diagnostic approach to infantile epileptic encephalopathies.

Kamien BA, Cardamone M, Lawson JA, Sachdev R.

J Clin Neurosci. 2012 Jul;19(7):934-41. doi: 10.1016/j.jocn.2012.01.017. Epub 2012 May 20. Review.

PMID:
22617547
7.

Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.

Matsumoto H, Zaha K, Nakamura Y, Hayashi S, Inazawa J, Nonoyama S.

Pediatr Neurol. 2014 Jul;51(1):170-5. doi: 10.1016/j.pediatrneurol.2014.03.013. Epub 2014 Apr 4.

PMID:
24938147
8.

Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma.

Jones K, Minassian BA.

Pediatr Neurol. 2014 May;50(5):522-4. doi: 10.1016/j.pediatrneurol.2013.11.018. Epub 2013 Dec 4.

PMID:
24485929
9.
10.

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Poulat AL, Lesca G, Sanlaville D, Blanchard G, Lion-François L, Rougeot C, des Portes V, Ville D.

Eur J Paediatr Neurol. 2014 Mar;18(2):176-82. doi: 10.1016/j.ejpn.2013.11.005. Epub 2013 Nov 18.

PMID:
24314761
11.

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 3rd.

Epilepsia. 2015 May;56(5):707-16. doi: 10.1111/epi.12954. Epub 2015 Mar 25.

12.

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.

Balasubramanian M, Smith K, Mordekar SR, Parker MJ.

Eur J Med Genet. 2011 May-Jun;54(3):314-8. doi: 10.1016/j.ejmg.2011.01.008. Epub 2011 Feb 26.

PMID:
21315189
13.

EEG findings in offspring of epileptic mothers.

Saito F, Kaneko S, Fukushima Y.

Jpn J Psychiatry Neurol. 1991 Jun;45(2):413-5. No abstract available.

PMID:
1762233
14.

Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications.

Yoshitomi S, Takahashi Y, Ishizuka M, Yamaguchi T, Watanabe A, Nasu H, Ueda Y, Ohtani H, Ikeda H, Imai K, Shigematsu H, Inoue Y, Tanahashi Y, Aiba K, Ohta H, Shimada S, Yamamoto T.

Brain Dev. 2015 Oct;37(9):874-9. doi: 10.1016/j.braindev.2015.03.001. Epub 2015 Apr 3.

PMID:
25843248
15.

Genetic considerations in childhood epilepsy.

Bird TD.

Epilepsia. 1987;28 Suppl 1:S71-81. Review.

PMID:
3113931
16.

Infantile spasms: etiological factors, clinical aspects, and long term prognosis in 200 cases.

Matsumoto A, Watanabe K, Negoro T, Sugiura M, Iwase K, Hara K, Miyazaki S.

Eur J Pediatr. 1981 Feb;135(3):239-44. No abstract available.

PMID:
7227378
17.

[Early-infantile epileptic encephalopathy with suppression-burst].

Ohtahara S.

Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):113-7. Review. Japanese. No abstract available.

PMID:
12483841
18.

[Infantile spasms (infantile myoclonic encephalopathy with hypsarrhythmia)].

Popescu V, Dragomir D, Arion C.

Pediatrie (Bucur). 1991;40(1-2):1-36. Review. Romanian.

PMID:
1667588
19.

Risk factors of infantile spasms compared with other seizures in children under 2 years of age.

Rantala H, Shields WD, Christenson PD, Nielsen C, Buch D, Jacobsen V, Zachau-Christiansen B, Uhari M, Cherry JD.

Epilepsia. 1996 Apr;37(4):362-6.

PMID:
8603641
20.

Cryptogenic late-onset epileptic spasms or late infantile epileptogenic encephalopathy?

Nordli DR Jr, Korff CM, Goldstein J, Koh S, Laux L, Kelley KR.

Epilepsia. 2007 Jan;48(1):206-8. No abstract available.

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