High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

De novo mutations in epileptic encephalopathies

Epileptic 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 (n5 149) and Lennox–Gastaut syndrome (n5 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A l...

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De novo mutations in epileptic encephalopathies

Epileptic 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 (n5 149) and Lennox–Gastaut syndrome (n5 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A l...

متن کامل

De novo mutations in epileptic encephalopathies

Epileptic 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 (n5 149) and Lennox–Gastaut syndrome (n5 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A l...

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the ‘‘classical’’ epileptic encephalopathies, infantil...

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De novo KCNB1 mutations in epileptic encephalopathy.

OBJECTIVE Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism. METHODS We searched for de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known etiology to determine t...

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

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منابع مشابه

De novo mutations in epileptic encephalopathies

De novo mutations in epileptic encephalopathies

De novo mutations in epileptic encephalopathies

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

De novo KCNB1 mutations in epileptic encephalopathy.

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