Add to ORKGEpileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n =
Epileptic encephalopathies represent a group of devastating epileptic disorders that occur early in ...
International audienceInfantile spasms syndrome (ISs) is characterized by clinical spasms with ictal...
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, un...
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which ...
Abstract Objective We determined the yield, genetic spectrum, and actual origin of de novo mutations...
Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40 % of pat...
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, un...
OBJECTIVE: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms....
Infantile spasms (IS) are a clinically and genetically heterogeneous group of epilepsy disorders in ...
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epile...
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epile...
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies ...
Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor ...
Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor ...
We set out to investigate whether a de-novo paradigm could explain genetic causes of chronic ultra-r...
Epileptic encephalopathies represent a group of devastating epileptic disorders that occur early in ...
International audienceInfantile spasms syndrome (ISs) is characterized by clinical spasms with ictal...
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, un...
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which ...
Abstract Objective We determined the yield, genetic spectrum, and actual origin of de novo mutations...
Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40 % of pat...
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, un...
OBJECTIVE: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms....
Infantile spasms (IS) are a clinically and genetically heterogeneous group of epilepsy disorders in ...
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epile...
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epile...
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies ...
Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor ...
Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor ...
We set out to investigate whether a de-novo paradigm could explain genetic causes of chronic ultra-r...
Epileptic encephalopathies represent a group of devastating epileptic disorders that occur early in ...
International audienceInfantile spasms syndrome (ISs) is characterized by clinical spasms with ictal...
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, un...