Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The minimal prevalence of SCN1A mosaic deletion is estimated to be 0.9% (95% confidence level: 0.11-3.11%) of DS with negative for SCN1A and PCDH19 mutations.
|
29341473 |
2018 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SCN1A mutation and 29 girls with fever-sensitive and cluster seizures.
|
27527380 |
2017 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The second seizure/cluster occurred after a longer latency in PCDH19-related epilepsy rather than in DS (10.1±13.6 vs 2.2±2.1months; p<0.05).
|
27371789 |
2016 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Basing on the numerous similarities between DS and PCDH19-related epilepsy, we tried stiripentol in a nine and half year old female patient with PCDH19-related resistant epilepsy, as add-on treatment to valproate and clobazam.
|
25510386 |
2015 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A-negative DS-like patients.
|
25204757 |
2015 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Underlying causes were identified in 15 children (65%) and included SCN1A-related Dravet syndrome (formerly severe myoclonic epilepsy of infancy) or genetic epilepsy with febrile seizures plus syndrome (n = 8 and n = 1, respectively), a protocadherin 19 mutation, a 1qter microdeletion, neuronal migration disorders (n = 2), and other monogenic familial epilepsy (n = 2).
|
25225143 |
2014 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
|
23808377 |
2013 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
SCN1A-negative Dravet syndrome patients and patients with phenotypes resembling Dravet syndrome were checked for PCDH19 and TSPYL4 mutations.
|
22848613 |
2012 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
PCDH19 sequencing analysis was performed in 116 females with various epilepsies, including 97 with Dravet syndrome (83.6%).
|
22050978 |
2012 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SCN1A-negative Dravet syndrome patients and patients with phenotypes resembling Dravet syndrome were checked for PCDH19 and TSPYL4 mutations.
|
22848613 |
2012 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
PCDH19 mutations might account for 5オ of overall DS cases.
|
23093055 |
2012 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
A small percentage of female patients with a DS-like phenotype might carry PCDH19 mutations.
|
21463275 |
2011 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A small percentage of female patients with a DS-like phenotype might carry PCDH19 mutations.
|
21463275 |
2011 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The second most important Dravet-associated gene is PCDH19.These patients initially may have all characteristics of Dravet syndrome but may later run a somewhat different course.
|
21504425 |
2011 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
|
19214208 |
2009 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
|
19214208 |
2009 |