Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

Keyphrases

• Developmental Delay 100%
• Nonepileptic 100%
• PH Domain 100%
• Neurobehavioral Abnormalities 100%
• Dynamin 100%
• Dnm1 100%
• Genetic Variants 50%
• Pathogenic Variants 50%
• Autistic Symptoms 50%
• Epileptic Encephalopathy 50%
• Whole Exome Sequencing 25%
• In Vitro Study 25%
• Phosphatidylinositol 4,5-bisphosphate (PIP2) 25%
• Central Nervous System 25%
• Exome Sequencing 25%
• Moderate to Severe 25%
• Exocytosis 25%
• Neurotransmitters 25%
• Severe Phenotype 25%
• Endocytosis 25%
• Global Developmental Delay 25%
• Missense 25%
• Mild Phenotype 25%
• Severe Intellectual Disability 25%
• Moderate Intellectual Disability 25%
• Middle Domain 25%
• GTPase Domain 25%
• Synaptic Vesicle Cycle 25%
• Identical Sibling 25%

Biochemistry, Genetics and Molecular Biology

• Pleckstrin Homology Domain 100%
• Dynamin 100%
• DNM1 100%
• Exome Sequencing 50%
• Genetic Divergence 50%
• Intellectual Disability 50%
• Missense 25%
• GTPase 25%
• Neurotransmitter 25%
• Endocytosis 25%
• Exocytosis 25%