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early onset epilepsy
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publication
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
2016 |
2. lékařská fakulta
publication
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
2019 |
2. lékařská fakulta
publication
The landscape of epilepsy-related GATOR1 variants
2019 |
2. lékařská fakulta
publication
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
2016 |
2. lékařská fakulta
publication
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
2017 |
2. lékařská fakulta
publication
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
2020 |
Ústřední knihovna
publication
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics
2020 |
2. lékařská fakulta
publication
mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus
2021 |
Ústřední knihovna, Přírodovědecká fakulta, Fakulta tělesné výchovy a sportu, 1. lékařská fakulta
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
2. lékařská fakulta