Area of research
Psychiatry and Mental health · Genetics
Research interest
Research interests include Medicine, Epilepsy, Biology, Phenotype, Genetics, and Neuroscience.
Clinical Characterization and Long-Term Outcome in Children and Adults With Anti-AMPA Receptor Encephalitis
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy
Vitamin B12 Deficiency Newborn Screening
Exome sequencing in Nigerian children with early‐onset epilepsy syndromes
<i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex
The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy
<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Germline AGO2 mutations impair RNA interference and human neurological development
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study
Treatment Responsiveness in KCNT1-Related Epilepsy
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
Parental mosaicism in epilepsies due to alleged de novo variants
<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
P 1162. Somatic Mosaics in Epileptogenic Tissue—Background and Therapeutic Implications of Molecular Changes in Structural Epilepsies