Berkovic SF - Search Results

1

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: berkovic sf. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.

2

Chronic encephalitis (Rasmussen's syndrome) and ipsilateral uveitis.

Harvey AS, Andermann F, Hopkins IJ, Kirkham TH, Berkovic SF. Harvey AS, et al. Among authors: berkovic sf. Ann Neurol. 1992 Dec;32(6):826-9. doi: 10.1002/ana.410320621. Ann Neurol. 1992. PMID: 1471877

3

Mitochondrial dysfunction in multiple symmetrical lipomatosis.

Berkovic SF, Andermann F, Shoubridge EA, Carpenter S, Robitaille Y, Andermann E, Melmed C, Karpati G. Berkovic SF, et al. Ann Neurol. 1991 May;29(5):566-9. doi: 10.1002/ana.410290519. Ann Neurol. 1991. PMID: 1650162

4

Clinical spectrum of mitochondrial DNA mutation at base pair 8344.

Berkovic SF, Shoubridge EA, Andermann F, Andermann E, Carpenter S, Karpati G. Berkovic SF, et al. Lancet. 1991 Aug 17;338(8764):457. doi: 10.1016/0140-6736(91)91090-h. Lancet. 1991. PMID: 1678125 No abstract available.

5

Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis.

Berkovic SF, So NK, Andermann F. Berkovic SF, et al. J Clin Neurophysiol. 1991 Jul;8(3):261-74. J Clin Neurophysiol. 1991. PMID: 1918332 Review.

6

In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF).

Matthews PM, Berkovic SF, Shoubridge EA, Andermann F, Karpati G, Carpenter S, Arnold DL. Matthews PM, et al. Among authors: berkovic sf. Ann Neurol. 1991 Apr;29(4):435-8. doi: 10.1002/ana.410290416. Ann Neurol. 1991. PMID: 1929212

7

Magnetic resonance imaging of hypothalamic hamartomas causing gelastic epilepsy.

Marliani AF, Tampieri D, Melançon D, Ethier R, Berkovic SF, Andermann F. Marliani AF, et al. Among authors: berkovic sf. Can Assoc Radiol J. 1991 Oct;42(5):335-9. Can Assoc Radiol J. 1991. PMID: 1933500

8

Ramsay Hunt syndrome: to bury or to praise.

Berkovic SF, Andermann F. Berkovic SF, et al. J Neurol Neurosurg Psychiatry. 1990 Jan;53(1):89-90. doi: 10.1136/jnnp.53.1.89. J Neurol Neurosurg Psychiatry. 1990. PMID: 2106013 Free PMC article. No abstract available.

9

The Ramsay Hunt syndrome is no longer a useful diagnostic category.

Andermann F, Berkovic S, Carpenter S, Andermann E. Andermann F, et al. Mov Disord. 1989;4(1):13-7. doi: 10.1002/mds.870040104. Mov Disord. 1989. PMID: 2494436 Review. No abstract available.

10

Valproate prevents the recurrence of absence status.

Berkovic SF, Andermann F, Guberman A, Hipola D, Bladin PF. Berkovic SF, et al. Neurology. 1989 Oct;39(10):1294-7. doi: 10.1212/wnl.39.10.1294. Neurology. 1989. PMID: 2507956

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