Multiple transmissions of de novo mutations in families

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...

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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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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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Multi-nucleotide de novo Mutations in Humans

Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, corresponding to a mutation rate of 1.29 × 10-8 per position per generation (PPPG) and 128...

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Multiple transmissions of de novo mutations in families

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منابع مشابه

De novo mutations in epileptic encephalopathies

De novo mutations in epileptic encephalopathies

De novo KCNB1 mutations in epileptic encephalopathy.

De novo mutations in epileptic encephalopathies

Multi-nucleotide de novo Mutations in Humans

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