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Publications by Elżbieta Szczepanik

Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

English

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Copy Number Variants Are Frequent in Genetic Generalized Epilepsy With Intellectual Disability

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TAF1, Associated With Intellectual Disability in Humans, Is Essential for Embryogenesis and Regulates Neurodevelopmental Processes in Zebrafish

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Perampanel and Challenging Behaviour in Intellectual Disability and Epilepsy: A Management Dilemma

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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Association of Temporal Lobe Epilepsy With Gambling Disorder in a Patient With Mild Intellectual Disability and Autism Spectrum Disorder

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Helsmoortel-Van Der Aa Syndrome Syndrome in a Patient With Epilepsy, Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder

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Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia

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