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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation isExpand
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Dorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, Willy M Nillesen, Helger G Yntema, Andreas Tzschach, Martine Raynaud, Dietz Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, DidierExpand
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Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus
In seven selected patients with dystonia musculorum deformans-1 generalised dystonia (DYT1), continuous bilateral stimulation of the globus pallidus internus was associated with substantialExpand
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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is a well-recognized problem. However,Expand
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a largeExpand
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Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
Sepiapterin reductase deficiency (SRD) is an under‐recognized levodopa‐responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatableExpand
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Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.
AIMS Our objective was to clarify the clinical heterogeneity in Duchenne muscular dystrophy (DMD). METHODS The French dystrophinopathy database provided clinical, histochemical and molecular dataExpand
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doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mentalExpand
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Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.
In a retrospective study, 32 patients with myotonic dystrophy, including congenital (n=17) and infantile/juvenile forms (n=15) were studied during a long follow-up lasting 7-28 years (median: 17Expand
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yetExpand
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