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Fig. 1 | Molecular Autism

Fig. 1

From: De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Fig. 1

CACNA1E structure and reported variants (A) and their impact on the patients’ phenotypes (B). Underlined and in bold are the patients described in this study; other patients were described in Helbig et al. [12] and in Heyne et al. [11]. The phenotypes include global developmental delay (GDD), epilepsy, movement disorder (Mvt. disorder) including dyskinesia, developmental regression (Dev. Regr.), social deficit (Social Def.) including autism spectrum disorder, hyperactivity, and spastic quadriplegia (Spastic Q.). The lack of circle indicates that the related phenotype is not present in the patient(s) with the variant

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Molecular Autism

ISSN: 2040-2392