Charuta Joshi Selected Research

Microcephaly

9/2015

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

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Charuta Joshi Research Topics

Disease

5	Seizures (Absence Seizure) 02/2021 - 05/2015
4	Epilepsy (Aura) 02/2021 - 04/2015
2	Drug Resistant Epilepsy 01/2022 - 01/2019
1	Tuberous Sclerosis (Bourneville's Disease) 01/2022
1	Infections 11/2021
1	Hemorrhage 11/2021
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 02/2021
1	Facial Paralysis (Facial Palsy) 01/2018
1	Temporal Lobe Epilepsy 01/2018
1	Brain Hypoxia-Ischemia (Hypoxia Ischemia, Brain) 01/2018
1	Lennox Gastaut Syndrome 01/2018
1	Hemimegalencephaly 01/2017
1	Hydrocephalus (Hydrocephaly) 01/2017
1	Brain Diseases (Brain Disorder) 10/2016
1	Infantile Spasms (West Syndrome) 02/2016
1	Encephalitis (Encephalitis, Rasmussen) 01/2016
1	Muscle Hypotonia (Hypotonia) 09/2015
1	Vision Disorders (Hemeralopia) 09/2015
1	Microcephaly 09/2015
1	Intellectual Disability (Idiocy) 09/2015
1	Sensorineural Hearing Loss 09/2015
1	Optic Neuritis (Retrobulbar Neuritis) 11/2014
1	Glut1 Deficiency Syndrome 07/2008

Drug/Important Bio-Agent (IBA)

4	CannabidiolIBA 01/2022 - 05/2015
2	Anticonvulsants (Antiepileptic Drugs)IBA 01/2018 - 05/2015
2	Pharmaceutical PreparationsIBA 01/2018 - 01/2017
2	Proteins (Proteins, Gene)FDA Link 09/2015 - 07/2008
1	trans-sodium crocetinate (crocetin)IBA 01/2022
1	imidazole mustard (BIC)IBA 01/2019
1	Bicarbonates (Hydrogen Carbonate)IBA 01/2019
1	Carnitine (L-Carnitine)FDA LinkGeneric 01/2019
1	MagnesiumIBA 01/2019
1	Phosphorus (Red Phosphorus)IBA 01/2019
1	SeleniumIBA 01/2019
1	ZincIBA 01/2019
1	3-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)IBA 01/2019
1	Adrenocorticotropic Hormone (ACTH)FDA Link 02/2016
1	Medical MarijuanaIBA 05/2015
1	AcidsIBA 04/2015
1	Lactic Acid (Lactate)FDA LinkGeneric 04/2015
1	Amino Acids FDA Link 04/2015
1	SteroidsIBA 11/2014
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 07/2008
1	Glucose Transporter Type 1IBA 07/2008
1	Glucose (Dextrose)FDA LinkGeneric 07/2008

Therapy/Procedure

4	Therapeutics 02/2021 - 01/2016
2	Ketogenic Diet 01/2019 - 10/2016
1	Blood Transfusion (Blood Transfusions) 11/2021
1	Rewarming 01/2018
1	Induced Hypothermia 01/2018
1	Electrodes (Electrode) 01/2018
1	Ventriculoperitoneal Shunt 01/2017