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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Shan Tang
*
,
Rikke S Møller
, EuroEPINOMICS-RES Consortium
, EuroEPINOMICS-RES NLES working group
*
Corresponding author af dette arbejde
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Keyphrases
Phenotypic Spectrum
100%
Epilepsy with Myoclonic-atonic Seizures
100%
Myoclonic-atonic Seizures
100%
Genetic Etiology
75%
Intellectual Disability
50%
Epilepsy
50%
Atonic
50%
Genome Analysis
50%
Myoclonic
50%
KIAA2022
50%
Neurodevelopmental Impairment
50%
Autism
25%
Autism Spectrum Disorder
25%
Attention Deficit Hyperactivity Disorder
25%
Large Cohort
25%
Whole Exome Sequencing
25%
Etiology
25%
Neuropsychiatric
25%
Patients with Epilepsy
25%
Pathogenic Variants
25%
SCN2A
25%
Clonic
25%
SYNGAP1
25%
Seizure Type
25%
STX1B
25%
Seizure Onset
25%
KCNB1
25%
Gene Set
25%
Syndromic
25%
Hyperactivity Disorder
25%
Methyl-CpG-binding Protein 2 (MeCP2)
25%
Tonic Seizures
25%
Pathogenic Genetic Variants
25%
SMARCA2
25%
KCNA2
25%
Behavioral Score
25%
CHD4
25%
ASH1L
25%
SLC6A1
25%
Neuroscience
Attention Deficit Hyperactivity Disorder
100%
Exome Sequencing
50%
Pervasive Developmental Disorder
50%
Hyperactivity
50%
Seizure Types
50%
KCNB1
50%
MECP2
50%
KCNA2
50%
Autism
50%