Scheffer IE - Search Results

1

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.

Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ. Lee WS, et al. Among authors: scheffer ie. Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17. Ann Clin Transl Neurol. 2019. PMID: 31353856 Free PMC article.

2

Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.

Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF. Scheffer IE, et al. Ann Neurol. 1995 Oct;38(4):633-42. doi: 10.1002/ana.410380412. Ann Neurol. 1995. PMID: 7574460

3

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.

Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Berkovic SF, et al. Among authors: scheffer ie. Arch Neurol. 1994 Nov;51(11):1125-8. doi: 10.1001/archneur.1994.00540230063014. Arch Neurol. 1994. PMID: 7980108

4

Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.

Ekşioğlu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh CA. Ekşioğlu YZ, et al. Among authors: scheffer ie. Neuron. 1996 Jan;16(1):77-87. doi: 10.1016/s0896-6273(00)80025-2. Neuron. 1996. PMID: 8562093 Free article.

5

Epilepsies with single gene inheritance.

Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Brain Dev. 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. Brain Dev. 1997. PMID: 9071484 Review.

6

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

Scheffer IE, Berkovic SF. Scheffer IE, et al. Brain. 1997 Mar;120 ( Pt 3):479-90. doi: 10.1093/brain/120.3.479. Brain. 1997. PMID: 9126059

7

Genetics of human partial epilepsy.

Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Curr Opin Neurol. 1997 Apr;10(2):110-4. doi: 10.1097/00019052-199704000-00007. Curr Opin Neurol. 1997. PMID: 9146992 Review.

8

Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation.

Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Hayman M, et al. Among authors: scheffer ie. Neurology. 1997 Oct;49(4):969-75. doi: 10.1212/wnl.49.4.969. Neurology. 1997. PMID: 9339675

9

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Gleeson JG, et al. Cell. 1998 Jan 9;92(1):63-72. doi: 10.1016/s0092-8674(00)80899-5. Cell. 1998. PMID: 9489700 Free article.

10

Febrile seizures: genetics and relationship to other epilepsy syndromes.

Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Curr Opin Neurol. 1998 Apr;11(2):129-34. doi: 10.1097/00019052-199804000-00009. Curr Opin Neurol. 1998. PMID: 9551293 Review.

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