MMG PUBLICATIONS

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Results: 4198  publications found.

E., .  et al. 0

C.; McMahon

O.; Novara
and epilepsy associated with 5q14.3-q15 deletion.;Neurology;;1526-632X 0028-3878;10.1212/01.wnl.0000336339.08878.2d;;BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically p - issue: I. E.; Guerrini - volume: R.";Periventricular heterotopia - pages: H. R.; Moncla.

, .  et al. 0

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Mov Disord. 2015 Sep, .  et al. 0

Doummar D

10.1002/mds.26303
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De Saint Martin A, .  et al. 0

Milh M." "Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13." Maillard PY Epilepsia 2022 20/06/2022 PMC9804453 10.1111/epi.17336

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Héron D, .  et al. 0

Bastaraud SC

Forsythe E
Kamien B - issue: Levy J - volume: Guet A - pages: de Villemeur TB.

Pierre, .  et al. 0

Sandra; Fredriksen

Dominique; Dubourg
Anne";TCF4 deletions in Pitt-Hopkins Syndrome;Human Mutation;;1098-1004;10.1002/humu.20859;;Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed - issue: Pierre; Villard - volume: Laurent; Goossens - pages: Jean; Philip.

and bilateral PH in the walls of the temporal horns of the lateral ventricles, .  et al. 0

associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. RESULTS: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. CONCLUSION: We identified a new syndrome featuring bilateral periventricular heterotopia (PH)

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recurrent infections and feeding difficulties. Degenerative features included early regression, .  et al. 0

acquired microcephaly and cerebral atrophy. Brain MRI revealed bilateral periventricular heterotopia

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Eur J Hum Genet. 2016 Apr, .  et al. 0

Abidi A

10.1038/ejhg.2015.159
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Wood JC, .  et al. 0

Sveden A

Azzarello-Burri S
Curr - issue: Charles P - volume: Cox H - pages: Carre W.

Borges-Correia A, .  et al. 0

Barkats M

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and a recurrent one. So far, .  et al. 0

a total of 20 different TCF4 gene mutations have been reported

with aim to increase the rate and specificity of PHS diagnosis.;2008-11;07/03/2016 15:17;23/06/2020 08:44;;E242-251;;11;29;;Hum. Mutat.;;;;;;;;eng;;;;;PubMed;;PMID: 18781613
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malformations of cortical development., .  et al. 0

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without any brain structural abnormality. To be included in the cohort, .  et al. 0

patient's epilepsy should begin before three months of age and be associated with abnormal interictal EEG and neurological impairment. Brain MRI should not show any structural abnormality that could account for the epilepsy. RESULTS: Out of those 71 patients

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Mol Cytogenet. 2015 Jun 16, .  et al. 0

Choucair N

10.1186/s13039-015-0149-0
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Heredia R, .  et al. 0

H

Kroes HY
Melchinger EU - issue: Masruha MR - volume: McLaughlin HM - pages: Marcelis CLM.

Philip N, .  et al. 0

Menten B

Grange DK
Bottani A - issue: Mortier G - volume: Friedman JM - pages: Gimelli S.

Steven, .  et al. 0

Chantal; Borges

Anne; Lindsay
- issue: chromosomal translocation t(2;7)(q35;p22). Cloning and sequencing of the two translocation breakpoints re - volume: - pages: we studied a fetus presenting a defect of cortical organization consisting of a polymicrogyric cortex and neuronal heterotopia within the white matter. Karyotype analysis revealed that the fetus was carrier of a balanced.

Jean-Christophe", .  et al. 0

we have quantified the levels of expression of the Mecp2 mRNA by real time PCR and MeCP2 protein by immunoquantifications

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the interictal background EEG was altered and displayed multifocal spikes or a suppression-burst pattern. The ongoing epilepsy and development were highly variable but overall severe: 15/16 had obvious cognitive impairment, .  et al. 0

half of the patients became seizure-free

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