Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous Variants

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Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous Variants

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scientific article published on 15 October 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Epileptic Encephalopathy and C ...... Compound Heterozygous Variants

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Epileptic Encephalopathy and C ...... Compound Heterozygous Variants

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Epileptic Encephalopathy and C ...... Compound Heterozygous Variants

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Epileptic Encephalopathy and C ...... Compound Heterozygous Variants

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Epileptic Encephalopathy and C ...... Compound Heterozygous Variants

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Epileptic Encephalopathy and C ...... Compound Heterozygous Variants

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P1476

Epileptic Encephalopathy and C ...... Heterozygous CACNA2D2 Variants

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Cristina da Silva

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John J Alexander

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Kameryn M Butler

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Philip J Holt

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Sarah S Milla

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P2860

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.

α2δ expression sets presynaptic calcium channel abundance and release probability

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

The neuropathology of ducky, a neurological mutation of the mouse. A pathological and preliminary histochemical study.

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

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6308283

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scholarly article

case report

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10.1155/2018/6308283

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English

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2018

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Andrew Escayg

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2018-10-15T00:00:00Z

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30410802

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6205307

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