Antonina Fontana Selected Research

Hairy elbows

2/2021

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

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Antonina Fontana Research Topics

Disease

3	Intellectual Disability (Idiocy) 04/2022 - 02/2021
3	Seizures (Absence Seizure) 01/2019 - 10/2003
2	Neurodevelopmental Disorders 04/2022 - 01/2022
2	Epilepsy (Aura) 02/2015 - 11/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 02/2021
1	Hairy elbows 02/2021
1	Mowat-Wilson syndrome 01/2020
1	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions) 01/2019
1	Convulsions benign familial neonatal dominant form 02/2015
1	Cognitive Dysfunction 02/2015
1	Brain Diseases (Brain Disorder) 02/2015
1	Renal cysts and diabetes syndrome 04/2014
1	Myoclonus (Nocturnal Myoclonus) 05/2013
1	Infantile Spasms (West Syndrome) 05/2013
1	Juvenile Myoclonic Epilepsy 05/2013
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 11/2011
1	Absence Epilepsy (Childhood Absence Epilepsy) 11/2011
1	Generalized Epilepsy 11/2011
1	Status Epilepticus (Complex Partial Status Epilepticus) 10/2003

Drug/Important Bio-Agent (IBA)

2	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2019 - 02/2015
2	Levetiracetam (Keppra)FDA LinkGeneric 01/2019 - 05/2013
1	Lysine (L-Lysine)FDA Link 04/2022
1	Nuclear Export Signals (Nuclear Export Signal)IBA 03/2022
1	Voltage-Gated Sodium ChannelsIBA 01/2022
1	Histone MethyltransferasesIBA 02/2021
1	ChromatinIBA 02/2021
1	SodiumIBA 01/2020
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2019
1	Hepatocyte Nuclear Factor 1-betaIBA 04/2014
1	Immunoglobulin E (IgE)IBA 11/2011
1	Tiagabine (Gabitril)FDA Link 10/2003