E Martina Bebin Selected Research

Snijders Blok-Campeau syndrome

1/2022	Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
10/2020	A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

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E Martina Bebin Research Topics

Disease

23	Epilepsy (Aura) 01/2022 - 09/2003
20	Tuberous Sclerosis (Bourneville's Disease) 01/2022 - 01/2013
10	Seizures (Absence Seizure) 01/2022 - 05/2002
5	Astrocytoma (Pilocytic Astrocytoma) 01/2018 - 01/2013
4	Angiomyolipoma 01/2018 - 06/2014
3	Inborn Genetic Diseases (Disease, Hereditary) 10/2021 - 01/2013
3	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021 - 12/2018
3	Neurodevelopmental Disorders 01/2021 - 12/2017
3	Drug Resistant Epilepsy 01/2021 - 09/2003
3	Autism Spectrum Disorder 03/2020 - 01/2019
3	Neoplasms (Cancer) 01/2018 - 01/2016
2	Snijders Blok-Campeau syndrome 01/2022 - 10/2020
2	Autistic Disorder (Autism) 03/2020 - 01/2019
2	Hamartoma 12/2019 - 01/2018
1	Sleepiness 01/2021
1	Diarrhea 01/2021
1	Lennox Gastaut Syndrome 01/2019
1	Infantile Spasms (West Syndrome) 12/2018
1	Intellectual Disability (Idiocy) 05/2018
1	Lymphangioleiomyomatosis (Lymphangiomyomatosis) 01/2018
1	CDKL5 deficiency disorder 01/2018
1	Malformations of Cortical Development 12/2017
1	Rhabdomyoma 12/2017
1	Brain Neoplasms (Brain Tumor) 10/2017
1	Schwannomatosis 03/2017
1	Neurocutaneous Syndromes (Phakomatoses) 03/2017
1	Sturge-Weber Syndrome (Sturge-Kalischer-Weber Syndrome) 03/2017
1	Neurofibromatoses (Neurofibromatosis) 03/2017
1	Hypersensitivity (Allergy) 12/2016
1	Hydrocephalus (Hydrocephaly) 01/2016
1	Stomatitis 01/2013
1	Fever (Fevers) 01/2013
1	Epilepsia Partialis Continua 08/2004
1	Dyskinesias (Dyskinesia) 08/2004
1	Urinary Retention 09/2003
1	Hoarseness 09/2003
1	Deglutition Disorders (Dysphagia) 09/2003
1	Sialorrhea 09/2003
1	Cough 09/2003
1	Infections 09/2003

Drug/Important Bio-Agent (IBA)

18	trans-sodium crocetinate (crocetin)IBA 01/2022 - 06/2014
15	CannabidiolIBA 01/2022 - 12/2014
6	Everolimus FDA Link 01/2018 - 01/2013
4	Pharmaceutical PreparationsIBA 01/2021 - 01/2017
4	Biomarkers (Surrogate Marker)IBA 03/2020 - 01/2016
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2021 - 05/2002
2	TOR Serine-Threonine KinasesIBA 01/2016 - 01/2013
1	Proteins (Proteins, Gene)FDA Link 01/2022
1	RNA (Ribonucleic Acid)IBA 01/2021
1	DNA HelicasesIBA 10/2020
1	Clobazam (HR 376)IBA 01/2019
1	PoisonsIBA 12/2018
1	Sodium Channels (Sodium Channel)IBA 12/2018
1	Vigabatrin FDA Link 12/2018
1	DNA (Deoxyribonucleic Acid)IBA 05/2018
1	Mediator ComplexIBA 05/2018
1	lipoarabinomannan (LAM)IBA 01/2018
1	CannabinoidsIBA 01/2017
1	Sodium Channel BlockersIBA 12/2016
1	Carbamazepine (Tegretol)FDA LinkGeneric 12/2016
1	Dronabinol (THC)FDA LinkGeneric 12/2014
1	EndocannabinoidsIBA 12/2014
1	Intravenous Immunoglobulins (IVIG)FDA Link 08/2004
1	SteroidsIBA 08/2004
1	Anti-Bacterial Agents (Antibiotics)IBA 09/2003
1	Levetiracetam (Keppra)FDA LinkGeneric 05/2002

Therapy/Procedure

5	Therapeutics 11/2020 - 05/2002
1	Aftercare (After-Treatment) 11/2020
1	Debridement 09/2003
1	Device Removal (Removal, Device) 09/2003
1	Vagus Nerve Stimulation 09/2003