Ion Channel Epilepsies

Ion Channel Epilepsies

A downloadable PDF At the end of the presentation, participants should be able to: Describe what is intractable childhood epilepsy Understand the mutations that occur to the ion channels Explain the benefits of genetic testing

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Glucose Transporter 1 Deficiency

Description: This deficiency mainly affects the brain and patients usually have seizures, which occur in the first few months of their life. Other Names & Associated Gene Mutations GLUT 1 SLC2A1 Associated Gene Mutations At this time there are no widely accepted gene mutations that are identified with this syndrome. 1) URL: http://www.ncbi.nlm.nih.gov/pubmed/19515520 Associated members: – Pierangelo Veggiotti , Federica Teutonico, Enrico Alfel, Valentina De Giorgisand Umberto Balottinhttp: Department of Child Neurology and...

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Lennox-Gastaut Syndrome

Description: It generally occurs in early childhood between the  2nd and 6th year of life. Patients usually have frequent seizures (different types) along with cognitive symptoms.  If child with diagnosis of LGS developed seizures before age 1 year, workup for Dravet syndrome should be considered. Other Names & Associated Gene Mutations LGS Associated Gene Mutations At this time there are no associated gene mutations Useful Links & Associated Physicians 1)      URL:http://www.ncbi.nlm.nih.gov/pubmed/19588340 Associated...

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Infantile Spasms (West Syndrome)

West Syndrome is a age dependent mixer of infantile spasm, mental retardation and EEG change that show hypsarrythmia.

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