De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Chung, Hyung-Lok
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. [electronic resource] - American journal of human genetics 05 2020 - 717-725 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2020.04.001 doi
Adult
Amino Acid Sequence
Animals
Brain Diseases--genetics
Child, Preschool
Cyclin-Dependent Kinase 8--deficiency
Cyclin-Dependent Kinases--genetics
Drosophila Proteins--deficiency
Drosophila melanogaster--genetics
Epilepsy, Generalized--genetics
Female
Humans
Infant
Infant, Newborn
Intellectual Disability--genetics
Male
Mutation, Missense--genetics
Neuromuscular Junction
Rare Diseases--genetics
Seizures--genetics
Syndrome
Young Adult
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. [electronic resource] - American journal of human genetics 05 2020 - 717-725 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2020.04.001 doi
Adult
Amino Acid Sequence
Animals
Brain Diseases--genetics
Child, Preschool
Cyclin-Dependent Kinase 8--deficiency
Cyclin-Dependent Kinases--genetics
Drosophila Proteins--deficiency
Drosophila melanogaster--genetics
Epilepsy, Generalized--genetics
Female
Humans
Infant
Infant, Newborn
Intellectual Disability--genetics
Male
Mutation, Missense--genetics
Neuromuscular Junction
Rare Diseases--genetics
Seizures--genetics
Syndrome
Young Adult