Researchers at Scripps Research Institute, San Diego, and other centers in California; Johns Hopkins, Baltimore; Vanderbilt University, TN; and Northwestern University Feinberg School of Medicine, Chicago, IL; searched for de novo mutations in a family with a sporadic case of epileptic encephalopathy
Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizur...
peer reviewedEpileptic encephalopathies are a phenotypically and genetically heterogeneous group of ...
Background Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or...
Investigators from the University Leipzig and University of Tübingen report mutations of...
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...
OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures...
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic enceph...
Importance Knowing the range of symptoms seen in patients with a missense or loss-of-function varian...
Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor ...
The fulltext of this publication will be made publicly available after relevant embargo periods have...
International audienceBACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic hetero...
© 2018 Dr. Umesh NairThe worldwide prevalence of epilepsy is between 2-3 % with many unmet clinical ...
Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizur...
peer reviewedEpileptic encephalopathies are a phenotypically and genetically heterogeneous group of ...
Background Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or...
Investigators from the University Leipzig and University of Tübingen report mutations of...
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...
OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures...
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic enceph...
Importance Knowing the range of symptoms seen in patients with a missense or loss-of-function varian...
Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor ...
The fulltext of this publication will be made publicly available after relevant embargo periods have...
International audienceBACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic hetero...
© 2018 Dr. Umesh NairThe worldwide prevalence of epilepsy is between 2-3 % with many unmet clinical ...
Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizur...
peer reviewedEpileptic encephalopathies are a phenotypically and genetically heterogeneous group of ...
Background Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or...
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