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Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 01/2017, Volume 88, Issue 5, pp. 483 - 492
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 8/2018, Volume 33, Issue 9, pp. 587 - 592
Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2016, Volume 47, Issue 6, pp. 361 - 367
Abstract Cyclin-dependent kinase-like 5 ( CDKL5 ) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe... 
Original Article | Phenotype-genotype correlation | CDKL5 gene-related early infantile epileptic encephalopathy | cyclin-dependent kinase-like 5 gene | INFANTILE SPASMS | EARLY-ONSET SEIZURES | PEDIATRICS | CLINICAL-FEATURES | VARIANT | CLINICAL NEUROLOGY
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2016, Volume 170, Issue 8, pp. 2173 - 2176
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 210 - 219
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since... 
Original Article | Epileptic encephalopathies | Familial epilepsies | Gene panel testing | Seizures | Original
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 12/2014, Volume 29, Issue 12, pp. NP202 - NP206
Epileptic encephalopathies represent a clinically and genetically heterogeneous group of disorders, majority of which are of unknown etiology. We used... 
Journal Article
Neuropediatrics, 12/2016, Volume 47, Issue 6, p. 361
Cyclin-dependent kinase-like 5 ( ) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual... 
Genetic Testing | Genetic Association Studies | Humans | Protein-Serine-Threonine Kinases - genetics | Child, Preschool | Infant | Male | Spasms, Infantile - genetics | Mutation - genetics | Phenotype | Adolescent | Epilepsy - genetics | Female | Estonia
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2012, Volume 55, Issue 3, pp. 178 - 184
Abstract Mutations in the KDM5C gene ( lysine (K)-specific demethylase 5C gene; also known as JARID1C and SMCX ; MIM 314690 ) were recently associated with... 
Medical Education | KDM5C | Mutation analysis | X-linked intellectual disability | JARID1C | JARID1C GENE | MENTAL-RETARDATION | GENETICS & HEREDITY | SHORT STATURE | DEFICIENCY | Young Adult | Mental Retardation, X-Linked - genetics | Oxidoreductases, N-Demethylating - genetics | Histone Demethylases | Humans | Adolescent | Adult | Family | Female | Male | Mutation | Child
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 248 - 248
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 247 - 247
Journal Article
Child Neurology Open, 04/2015, Volume 2
Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O ( GNAO1 ) gene have recently been described in 6 patients... 
Journal Article
Epilepsia open, ISSN 2470-9239, 06/2018, Volume 3, Issue 2, pp. 193 - 202
With an incidence up to 63 per 100,000 live births, perinatal stroke is an important cause of childhood epilepsy. The aim of the study was to find the... 
Journal Article
Child Neurology Open, ISSN 2329-048X, 04/2015, Volume 2, Issue 2, p. 2329048X15583717
Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients... 
Journal Article
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