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About 1,330 results

ALLMedicine™ Epileptic Encephalopathies Center

Research & Reviews  659 results

WDR45, one gene associated with multiple neurodevelopmental disorders.
https://doi.org/10.1080/15548627.2021.1899669
Autophagy Cong Y, So V et. al.

Apr 12th, 2021 - The WDR45 gene is localized on the X-chromosome and variants in this gene are linked to six different neurodegenerative disorders, i.e., ß-propeller protein associated neurodegeneration, Rett-like syndrome, intellectual disability, and epileptic e...

Safety, tolerability, pharmacokinetics, pharmacodynamics, bioavailability and food effe...
https://doi.org/10.1111/bcp.14854
British Journal of Clinical Pharmacology; Wang S, Chen G et. al.

Apr 10th, 2021 - Soticlestat is a first-in-class selective inhibitor of cholesterol 24-hydroxylase, the enzyme that converts brain cholesterol to 24S-hydroxycholesterol (24HC), a positive allosteric modulator of N-methyl-D-aspartate receptors. Soticlestat is under...

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic ence...
https://doi.org/10.1093/brain/awab145
Brain : a Journal of Neurology; Bleakley LE, McKenzie CE et. al.

Apr 6th, 2021 - Pathogenic variants in HCN1 are associated with developmental and epileptic encephalopathies. The recurrent de novo HCN1 M305L pathogenic variant is associated with severe developmental impairment and drug-resistant epilepsy. We engineered the hom...

Spontaneous seizures and elevated seizure susceptibility in response to somatic mutatio...
https://doi.org/10.1093/hmg/ddab092
Human Molecular Genetics; Yu W, Smolen CE et. al.

Apr 6th, 2021 - De novo mutations of neuronal sodium channels are responsible for approximately 5% of developmental and epileptic encephalopathies, but the role of somatic mutation of these genes in adult-onset epilepsy is not known. We evaluated the role of post...

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Guidelines  1 results

Cilantro leaf harbors a potent potassium channel-activating anticonvulsant
https://content.iospress.com/articles/journal-of-alzheimers-disease/jad180959
FASEB J; Manville RW,et al

Sep 30th, 2019 - Herbs have a long history of use as folk medicine anticonvulsants, yet the underlying mechanisms often remain unknown. Neuronal voltage-gated potassium channel subfamily Q (KCNQ) dysfunction can cause severe epileptic encephalopathies that are res...

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Clinicaltrials.gov  663 results

WDR45, one gene associated with multiple neurodevelopmental disorders.
https://doi.org/10.1080/15548627.2021.1899669
Autophagy Cong Y, So V et. al.

Apr 12th, 2021 - The WDR45 gene is localized on the X-chromosome and variants in this gene are linked to six different neurodegenerative disorders, i.e., ß-propeller protein associated neurodegeneration, Rett-like syndrome, intellectual disability, and epileptic e...

Safety, tolerability, pharmacokinetics, pharmacodynamics, bioavailability and food effe...
https://doi.org/10.1111/bcp.14854
British Journal of Clinical Pharmacology; Wang S, Chen G et. al.

Apr 10th, 2021 - Soticlestat is a first-in-class selective inhibitor of cholesterol 24-hydroxylase, the enzyme that converts brain cholesterol to 24S-hydroxycholesterol (24HC), a positive allosteric modulator of N-methyl-D-aspartate receptors. Soticlestat is under...

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic ence...
https://doi.org/10.1093/brain/awab145
Brain : a Journal of Neurology; Bleakley LE, McKenzie CE et. al.

Apr 6th, 2021 - Pathogenic variants in HCN1 are associated with developmental and epileptic encephalopathies. The recurrent de novo HCN1 M305L pathogenic variant is associated with severe developmental impairment and drug-resistant epilepsy. We engineered the hom...

Spontaneous seizures and elevated seizure susceptibility in response to somatic mutatio...
https://doi.org/10.1093/hmg/ddab092
Human Molecular Genetics; Yu W, Smolen CE et. al.

Apr 6th, 2021 - De novo mutations of neuronal sodium channels are responsible for approximately 5% of developmental and epileptic encephalopathies, but the role of somatic mutation of these genes in adult-onset epilepsy is not known. We evaluated the role of post...

see more →

News  7 results

Rare Pediatric Diseases Special Report 2019
https://www.mdedge.com/pediatrics/article/211163/rare-diseases/rare-pediatric-diseases-special-report-2019?channel=167

Oct 29th, 2019 - The Rare Pediatric Diseases Special Report is a supplement to Pediatric News that discusses advancements in the treatment of rare pediatric neuromuscular disorders like spinal muscular atrophy, Duchenne muscular dystrophy, and X-linked myotubular.

Cilantro leaf harbors a potent potassium channel-activating anticonvulsant
https://content.iospress.com/articles/journal-of-alzheimers-disease/jad180959
FASEB J; Manville RW,et al

Sep 30th, 2019 - Herbs have a long history of use as folk medicine anticonvulsants, yet the underlying mechanisms often remain unknown. Neuronal voltage-gated potassium channel subfamily Q (KCNQ) dysfunction can cause severe epileptic encephalopathies that are res...

Study identifies several genes associated with epileptic encephalopathies
https://www.mdedge.com/neurology/article/79305/neurology/study-identifies-several-genes-associated-epileptic
Elizabeth Mechcatie

Dec 9th, 2013 - WASHINGTON – Recently identified genes associated with severe epilepsies have shed some light on biological pathways involved in epileptogenesis, which could eventually lead to targeted treatments, Gemma Carvill, Ph. D.

New Childhood Epilepsy Genes Discovered
https://www.medscape.com/viewarticle/809513

Aug 14th, 2013 - Using a cutting-edge strategy called exome sequencing to search for de novo mutations, researchers have found genetic defects that might cause infantile spasm and Lennox-Gastaut syndrome (LGS), 2 devastating childhood epileptic encephalopathies. E...

New Childhood Epilepsy Genes Discovered
https://www.staging.medscape.com/viewarticle/809513

Aug 14th, 2013 - Using a cutting-edge strategy called exome sequencing to search for de novo mutations, researchers have found genetic defects that might cause infantile spasm and Lennox-Gastaut syndrome (LGS), 2 devastating childhood epileptic encephalopathies. E...

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