and involve several genes implicated in various steps of brain development. Haploinsufficiency of the mouse orthologue of YWHAE causes a defect of neuronal migration. However, .  et al. 0

the human counterpart of this phenotype was not known. The case described here represents the smallest reported deletion involving the YWHAE gene and could represent the human counterpart of the abnormal cortical organisation phenotype presented by the Ywhae heterozygous knockout mouse.;2

Neurology. 2009 Mar 3, .  et al. 0

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and imaging phenotype of patients with FHF1-DEE, .  et al. 0

which is characterized by early onset epilepsy with tonic seizures

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Judith; Duffourd

Pierre, .  et al. 0

Emmanuelle; Ben Zeev

Spain and Latvia. Clinical data have been compared with the two previously reported patients with mutations in FOXG1. In all cases hypotonia, .  et al. 0

irresponsiveness and irritability were present in the neonatal period. At birth

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Giurgea I

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Orellana C

we hypothesized that the observed phenotype was due to mutations in the same gene, .  et al. 0

and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5

and perisylvian polymicrogyria. The duplicated segment is intrachromosomal, .  et al. 0

duplicated in mirror and contains two genes: enolase 1 (ENO1) and RERE

, .  et al. 0

Brain Res. 2008 Oct 21, .  et al. 0

Dura E