MMG PUBLICATIONS

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Results: 4167  publications found.

each patient in addition displayed a particular clinical and EEG feature: In two pat, .  et al. 0

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Eur J Paediatr Neurol. 2013 Nov, .  et al. 0

Tanyalçin I

10.1016/j.ejpn.2013.05.002
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Canc, .  et al. 0

Barcia G

Losito E
- issue: - volume: - pages: Nabbout R. "Clin Neurophysiol. 2021 Apr;132(4):841-850. doi: 10.1016/j.clinph.2021.01.014. Epub 2021 Feb 3." Lo Barco T Clin N.


Saillour Y, .  et al. 0

Castelnau L

Bourgeois M
- issue: Pinard JM - volume: Beldjord C - pages: Roubertie A.


Nathalie, .  et al. 0

Caroline; Abidi

Florence; Isidor
Christelle; Lebrun - issue: Mondher; Ville - volume: Dorothée; Marignier - pages: Julia; Laroche.


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whereas the three other patients displayed epileptic spasms associated with typical suppression-burst patterns starting from the early recordings. Epilepsy dramatically improved after 6 months and finally disappeared before the end of the first year of life for four patients, .  et al. 0

EEG paroxysmal abnormalities disappeared in three patients and decreased in two

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Orphanet J Rare Dis. 2013 May 22, .  et al. 0

Milh M

10.1186/1750-1172-8-80
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Badens C, .  et al. 0

L

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Moncla A, .  et al. 0

Ayrault AD

Moraine C.;"Am J Med Genet. 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N.";Raynaud M;Am J Med...
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Hum Mol Genet. 2013 Aug 15, .  et al. 0

Van Maldergem L

10.1093/hmg/ddt187
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Ciofi P, .  et al. 0

Andrieu D

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and normal head growth. In addition, .  et al. 0

we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider STXBP1 molecular screening.;2015-12;07/03/2016 15:10;23/06/2020 08:43;;1931-1940;;12;56;;Epilepsia;Epileptic patients with de novo STXBP1 mutations;;;;;;;ENG;;;;;PubMed;;PMID: 26514728

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Samantha, .  et al. 0

Nadine; Villard

microcephaly
hearing impairment - issue: umbilical hernia - volume: a secundum atrial septal defect - pages: and partial syndactyly of some fingers and toes. He had psychomotor retardation.


, .  et al. 0

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Hum Mutat. 2013 Jun, .  et al. 0

Milh M

10.1002/humu.22318
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