Figure 1 Segregation and localization of the identified variants Pedigrees of the mutated families with mutations and schematic representation of the genes.

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Presentation transcript:

Figure 1 Segregation and localization of the identified variants Pedigrees of the mutated families with mutations and schematic representation of the genes and the identified variants are presented. Segregation and localization of the identified variants Pedigrees of the mutated families with mutations and schematic representation of the genes and the identified variants are presented. Phenotype labels: EAF = epilepsy with auditory features; GTCS = generalized tonic-clonic seizures; GS = generalized seizures; FS = febrile seizures; unclassified: it is undetermined whether the seizure type is focal or generalized. Gene diagrams and variants: blue lines represent the genomic regions spanned by the gene, while the blue bars represent the exons. Colored blocks surrounding gene regions correspond to the protein domains encoded by the embedded exons. DEP = Dishevelled, Egl-10 and Pleckstrin domain; D1-4 = domains 1–4; F5/8 = discoidin domain; LGL = laminin G-like domain; EL = EGF-like domain; FCT = fibrinogen C-terminal domain; TM = transmembrane domain. The probands' Sanger sequencing electropherogram surrounding the variant site is reported. The histogram plot represents the result of the real-time PCR. Log2ratios of ΔΔCt from patient A:III:1, patient A:IV:1, and a normal individual each against a control sample are plotted. The control sample is one that was negative for CNTNAP2 rearrangements by array comparative genomic hybridization analyses. Four probes were tested. Probe 1 and probe 2 are located in intron 1, while probe 3 and probe 4 are located in intron 3. Tommaso Pippucci et al. Neurol Genet 2015;1:e5 © 2015 American Academy of Neurology