Refractory juvenile myoclonic epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sudden Unexplained Death in Childhood
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Migraine, Familial Hemiplegic, 3
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
14
|
0.700 |
moderate |
1.000 |
17 |
14
|
2000 |
2018 |
Panayiotopoulos Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.030 |
None |
0.667 |
3 |
|
2009 |
2017 |
SCN8A-related epilepsy with encephalopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
52
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Refractory myoclonic epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Febrile Convulsions, Familial, 3a
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Epilepsy, Reflex
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Hemiplegia-hemiconvulsion-epilepsy syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Abnormality of mouth size
|
phenotype |
|
Anatomical Abnormality
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Early Infantile Epileptic Encephalopathy 6
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
392
|
0.800 |
None |
1.000 |
75 |
390
|
2000 |
2018 |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
4
|
58
|
0.730 |
None |
1.000 |
39 |
58
|
2000 |
2012 |
Generalized Nonconvulsive Seizure Disorder
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Epilepsy, Atonic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Epilepsy, Tonic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Epilepsy, Akinetic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Symptomatic Generalized Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2011 |
Poor short-term memory
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Familial migraine
|
disease |
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hemiclonic seizures
|
phenotype |
Nervous System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
MYOCLONIC-ATONIC EPILEPSY
|
disease |
|
Disease or Syndrome
|
6
|
16
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2012 |
Generalized convulsive epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
MEGALENCEPHALY, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
6
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
EEG with focal sharp slow waves
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|