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Publications by Ana Cristina Nogueira Freitas

Gain of Channel Function and Modified Gating Properties in TRPM3 Mutants Causing Intellectual Disability and Epilepsy

English

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Pain Without Gain (Of Function): Sodium Channel Dysfunction in Epilepsy

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Pachygyria-Intellectual Disability-Epilepsy Syndrome

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Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

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X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

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

Case Reports in Psychiatry

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Genomic Aberrations of the CACNA2D1 Gene in Three Patients With Epilepsy and Intellectual Disability

European Journal of Human Genetics

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

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Novel Gain-Of-Function Mechanism in K+ Channel-Related Long-Qt Syndrome: : Altered Gating and Selectivity in the HERG1 N629D Mutant

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

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