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Results: 1 to 20 of 124

1.

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.

Tavyev Asher YJ, Scaglia F.

Eur J Med Genet. 2012 May;55(5):299-306. doi: 10.1016/j.ejmg.2012.04.002. Epub 2012 Apr 22. Review.

PMID:
22548976
[PubMed - indexed for MEDLINE]
2.

Epileptic encephalopathies in infants and children.

Nordli DR Jr.

J Clin Neurophysiol. 2012 Oct;29(5):420-4. doi: 10.1097/WNP.0b013e31826bd961. Review.

PMID:
23027099
[PubMed - indexed for MEDLINE]
3.

Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood.

Zupanc ML.

J Child Neurol. 2009 Aug;24(8 Suppl):6S-14S. doi: 10.1177/0883073809338151. Review.

PMID:
19666878
[PubMed - indexed for MEDLINE]
4.

Clinical review of genetic epileptic encephalopathies.

Noh GJ, Jane Tavyev Asher Y, Graham JM Jr.

Eur J Med Genet. 2012 May;55(5):281-98. doi: 10.1016/j.ejmg.2011.12.010. Epub 2012 Jan 25. Review.

PMID:
22342633
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L.

Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19.

PMID:
21770924
[PubMed - indexed for MEDLINE]
6.

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

Mastrangelo M, Leuzzi V.

Pediatr Neurol. 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003. Review.

PMID:
22196487
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
21762454
[PubMed - indexed for MEDLINE]
8.

[Inter-relationships of the epileptic encephalopathies of infancy].

Rufo-Campos M.

Rev Neurol. 2000 Jun;30 Suppl 1:S74-80. Review. Spanish.

PMID:
10904970
[PubMed - indexed for MEDLINE]
9.

Ohtahara syndrome with emphasis on recent genetic discovery.

Pavone P, Spalice A, Polizzi A, Parisi P, Ruggieri M.

Brain Dev. 2012 Jun;34(6):459-68. doi: 10.1016/j.braindev.2011.09.004. Epub 2011 Oct 2. Review.

PMID:
21967765
[PubMed - indexed for MEDLINE]
10.

Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

Fusco L, Pachatz C, Di Capua M, Vigevano F.

Brain Dev. 2001 Nov;23(7):708-14.

PMID:
11701283
[PubMed - indexed for MEDLINE]
11.

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.

Am J Hum Genet. 2007 Aug;81(2):361-6. Epub 2007 Jun 11.

PMID:
17668384
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Malignant epileptic encephalopathies in children.

Dulac OJ, Chiron C.

Baillieres Clin Neurol. 1996 Dec;5(4):765-81. Review.

PMID:
9068880
[PubMed - indexed for MEDLINE]
13.

[Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].

Terczyńska I, Mierzewska H, Szczepanik E, Antczak-Marach D.

Przegl Lek. 2010;67(9):757-61. Polish.

PMID:
21387820
[PubMed - indexed for MEDLINE]
14.

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Kurian MA, Meyer E, Vassallo G, Morgan NV, Prakash N, Pasha S, Hai NA, Shuib S, Rahman F, Wassmer E, Cross JH, O'Callaghan FJ, Osborne JP, Scheffer IE, Gissen P, Maher ER.

Brain. 2010 Oct;133(10):2964-70. doi: 10.1093/brain/awq238. Epub 2010 Sep 9.

PMID:
20833646
[PubMed - indexed for MEDLINE]
Free Article
15.

Early infantile epileptic encephalopathy with suppression burst: Ohtahara syndrome.

Clarke M, Gill J, Noronha M, McKinlay I.

Dev Med Child Neurol. 1987 Aug;29(4):520-8.

PMID:
3678631
[PubMed - indexed for MEDLINE]
16.
17.

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
[PubMed - indexed for MEDLINE]
18.

Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome).

Hrachovy RA, Frost JD Jr.

J Clin Neurophysiol. 2003 Nov-Dec;20(6):408-25. Review.

PMID:
14734931
[PubMed - indexed for MEDLINE]
19.

Hidden focal EEG seizures during prolonged suppressions and high-amplitude bursts in early infantile epileptic encephalopathy.

Al-Futaisi A, Banwell B, Ochi A, Hew J, Chu B, Oishi M, Otsubo H.

Clin Neurophysiol. 2005 May;116(5):1113-7. Epub 2005 Jan 25.

PMID:
15826852
[PubMed - indexed for MEDLINE]
20.

Neonatal seizures and syndromes.

Tharp BR.

Epilepsia. 2002;43 Suppl 3:2-10. Review.

PMID:
12060001
[PubMed - indexed for MEDLINE]
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