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Results: 4199  publications found.

Epilepsia Open. 2025 Jul 9. doi: 10.1002/epi4.70087. Online ahead of print., .  et al. 0

Louis J

10.1002/epi4.70087
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A. M., .  et al. 0

L.; Cardoso

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Lennox-Gastaut not emerging from West syndrome (two patients), .  et al. 0

and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome

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, .  et al. 0

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A. M., .  et al. 0

A. A.; Whitehead

exhibited much less seasonal variation
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Popovici C, .  et al. 0

Missirian C

Badens C
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Epilepsia. 2025 Jun 18. doi: 10.1111/epi.18507. Online ahead of print., .  et al. 0

Adamo-Croux M

10.1111/epi.18507
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A. M., .  et al. 0

C.; Belougne

A.; Moraine
- issue: inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of t - volume: - pages: inv(X) (p11.1q13.1) and case 2 a paracentric inversion 46.

truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, .  et al. 0

characterized by slowing of fast inactivation

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, .  et al. 0

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, .  et al. 0

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Vinet MC, .  et al. 0

Jonveaux P

Tardieu M
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Epilepsia. 2025 Jun 9. doi: 10.1111/epi.18495. Online ahead of print., .  et al. 0

Pierret C

10.1111/epi.18495
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a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene., .  et al. 0

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response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.", .  et al. 0

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resulting in the partial deletion of WASF1 in monozygotic twins, .  et al. 0

and three missense variants

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A., .  et al. 0

K. A.; Murphy

haematological parameters
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, .  et al. 0

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. - PubMed - NCBI

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Dufour L, .  et al. 0

Ville D

Keren B
Doummar D. "Brain Dev. 2018 Oct;40(9):768-774. doi: 10.1016/j.braindev.2018.05.008. Epub 2018 May 31." Marzin - issue: Whalen S - volume: Heron D - pages: Richelme C.

Lancet Reg Health Eur. 2025 Jan 6, .  et al. 0

PFMG2025 contributors

10.1016/j.lanepe.2024.101183
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