What question did this study set out to answer?

Identify novel genetic etiologies responsible for Dravet-like epileptic encephalopathy in patients negative for SCN1A mutations.

February 13, 2009PLoS GeneticsOpen Access

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

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Authors

CDChristel DepienneEssen University Hospital DBDelphine BouteillerCentre National de la Recherche Scientifique BKBoris KerenUniversité de Pau et des Pays de l'Adour

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Implication

Genetic analysis reveals PCDH19 mutations cause a Dravet-like epileptic encephalopathy predominantly in females, suggesting cellular interference drives pathogenesis.

Key Points

Identify novel genetic etiologies responsible for Dravet-like epileptic encephalopathy in patients negative for SCN1A mutations.
Screened 41 SCN1A-negative probands for micro-rearrangements using Illumina high-density SNP microarrays.
Sequenced the PCDH19 coding region in an additional cohort of 73 SCN1A-negative patients and evaluated fibroblast mosaicism in an affected male.
Identified a hemizygous Xq22.1 (PCDH19) mosaic deletion in one male patient and nine distinct point mutations (four missense, five truncating) across 11 unrelated female patients.
PCDH19 mutations produced clinical features highly similar to Dravet syndrome—including early clustered seizures, cognitive regression, and developmental delays—with fewer polymorphic seizures such as myoclonic jerks and atypical absences.

Cite This Study

Depienne et al. (2009) studied this question.

synapsesocial.com/papers/6a71da87439bab0cabc3b033 https://doi.org/10.1371/journal.pgen.1000381

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Implication

Genetic analysis reveals PCDH19 mutations cause a Dravet-like epileptic encephalopathy predominantly in females, suggesting cellular interference drives pathogenesis.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

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Implication

Key Points

Cite This Study

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Discussion

Member takes

Implication

Key Points

Cite This Study

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