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You searched for: Author/Creator Scheffer, Ingrid E

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1. 009 Axonal excitability properties in dravet's syndrome reflect effect of loss of sodium channels. (29th July 2019)

3. A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation. (25th March 2014)

4. Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. (25th October 2013)

5. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. (23rd December 2019)

6. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. Issue 1 (28th January 2021)

7. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Issue 11 (5th July 2022)

8. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. Issue 2 (8th July 2009)

10. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Issue 3 (14th September 2009)