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2012 (v1)PublicationUploaded on: July 3, 2024
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2013 (v1)Publication
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Uploaded on: October 11, 2023 -
2013 (v1)Publication
Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A...
Uploaded on: April 14, 2023 -
2012 (v1)Publication
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Uploaded on: March 27, 2023 -
2016 (v1)Publication
SYNJ1 encodes a polyphosphoinositide phosphatase, synaptojanin 1, which contains two consecutive phosphatase domains and plays a prominent role in synaptic vesicle dynamics. Autosomal recessive inherited variants in SYNJ1 have previously been associated with two different neurological diseases: a recurrent homozygous missense variant...
Uploaded on: April 14, 2023