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3q26.32-q33CNV Type: Duplication


Largest CNV size: 182000 bp

Statistics Box:
Number of Reports: 1



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 182000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  lesca_12_EP_discovery_cases-caseDX94
 NA
 F
 Epilepsy
 Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal, absences. Autistic features: No. ADHD features: No. Other features: Right frontal PMG.
 Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 76, performance IQ 51 (at 11 years of age).
 179251276
 179433177
  181902
 GRCh38
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 lesca_12_EP_discovery_cases-caseDX94
 qPCR
 
 Unknown (not maternal)
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,KCNMB3,MFN1,GNB4
 

Controls

No Control Data Available
No Animal Model Data Available
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