Faculty

Institution

Unit

Venue

Ai Sakonju, MD

Associate Professor

Upstate Medical University

Ai Sakonju, Md is currently serving as a Center For Development, Behavior And Genetics Associate Professor at Upstate Medical University.

Honors

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Experiences

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Education

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Ai Sakonju, MD

Upstate Medical University

Associate Professor

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neurogenetics neuropathology neurology genetics human genetics child neurology medical genetics mendelian disorder genetic disorders genomics diagnosis molecular genetics case report medicine public health molecular psychiatry neurological disorders developmental anomalies clinical neurology disease gene identification krabbe disease episodic dystonia electrophysiologic myokymia genetic epidemiology multiple sclerosis thrombosis movement disorders neurodevelopmental disorders brain tumor research molecular neurodegeneration genome biology heredity disease surveillance disease detection disease diagnosis mental health monitoring brain imaging pediatric spine visceral trauma pediatric orthopedic surgery case series brain stimulation motor disorders neurostimulation diagnostic neuroradiology tumoral pathology malignant disease nutritional neuroscience clustered mutations peripheral dysmyelination chromosome 18 early recognition pediatric patients new york refractory acquired dystonia deep brain stimulation pediatric dystonia system-level change diagnostic clues dominant ryr1 mutations physical medicine internal medicine rehabilitation translational research intellectual disability rehabilitation engineering sport medicine musculoskeletal disorders jama psychiatry disability human biology physical therapy neuropsychology medical sociology parkinson's disease spinal cord motor control central nervous system health sciences neurodegenerative diseases individualized medicine muscular dystrophies medical history neurorehabilitation neuromuscular medicine kinesiology world psychiatry myositis neuroscience epilepsy

Notable Scholarly Works

Notable Federal Grants

Collaborators

Case Series of Pediatric Patients With Neurological Complications in Setting of Mycoplasma Infection During Winter in Syracuse, New York. Journal of the Neurological Sciences (2025)

pediatricsinfectious diseasespediatric patientsneuropathologyinfectious diseases (medical specialty)new yorkcase series

Deep Brain Stimulation (Dbs) in Pediatric Dystonia: The Youngest Case of Neuromodulation for Refractory Acquired Dystonia and Status Dystonicus With 1-Year Follow-Up (P10-5.008). Neurology (2025)

neurologypediatricsneurostimulationneurological disordersclinical neurologyneurodevelopmental disordersneuromuscular medicineneurosciencemovement disordersneuropathologymotor disorderspediatric dystoniarefractory acquired dystoniachild neurologybrain stimulationdeep brain stimulationneuroimagingcentral nervous system

Disp-12. Diagnostic Clues to Central Nervous System (Cns) Tumors in Children With Developmental Delay: A Case for System-Level Change. Neuro-Oncology (2025)

neurologymalignant diseasegliomasdiagnostic neuroradiologydiagnosisdiagnostic cluescentral nervous systemneurosciencebrain tumor researchtumoral pathologyneuropathologysystem-level changechild neurologyneuro-oncology

Novel Mechanism of Cerebral Folate Deficiency With Compound Heterozygous Variants in Reduced Folate Carrier (Slc19A1) in Two Siblings Manifesting With Acute Brainstem Lesions (Atypical Adem) (P8-6.006). Neurology (2025)

nutritional neuroscienceneurologyreduced folate carrierneurogeneticsmolecular neurodegenerationgenetic disordersacute brainstem lesionsneuroscienceneurodegenerative diseasesneuropathologymolecular neurosciencehuman geneticsmolecular psychiatrycerebral folate deficiency

Rapid Genetic Testing in the Picu: Uncovering Col4A2-Related Gould Syndrome in Super-Refractory Status Epilepticus. BMJ Case Reports (2025)

neurogeneticsgenetic disordersmendelian disorderrapid genetic testinggenomicsgenome biologydevelopmental biologymolecular geneticsdisease gene identificationsuper-refractory status epilepticusepilepsyheredityhuman geneticsmedical geneticsgenetics

NEUROGENETICS: Congenital Myotonic Dystrophy With Asymptomatic Mother May Be Missed by Whole Exome Sequencing; Biopsy, Dmpk1 Gene Testing and Emg May Be Required to Resolve Vus in Neonates, a Case Report. (P6-8.010). Neurology (2023)

pediatricsneurologycongenital myotonic dystrophyneurogeneticsgenetic disordersmendelian disordercase reportwhole exome sequencingdevelopmental biologydevelopmental anomaliesmuscular dystrophieshuman geneticsmolecular psychiatrychild neurology

P241: Expanding the Phenotype of Dream-Pl: A Case Report. Genetics in Medicine Open (2023)

Daniel MahoneyJennifer BlackNienke DosaAi SakonjuRobert Lebel

medical geneticsmedicinegenetics

EP184: Novel Kcna1 Pathogenic Variant Associated Syndrome of Episodic Dystonia and Electrophysiologic Myokymia - a Case Report. Genetics in Medicine (2022)

pathologygenetic disordersneurogeneticsmendelian disordercase reportelectrophysiologic myokymianeuropathologymuscular dystrophiesepisodic dystonia

Novel Kcna1 Variant Associated Syndrome of Episodic Dystonia and Electrophysiologic Myokymia - a Case Report (P13-13.009). Neurology (2022)

neurogeneticsmendelian disordercase reportelectrophysiologic myokymianeuroscienceneuropathologymuscular dystrophiesepisodic dystonia

Role of Electroencephalogram (Eeg) and Magnetic Resonance Imaging (Mri) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease. Journal of Child Neurology (2022)

Mai-Lan HoElaine C. WirrellKalliopi PetropoulouAi SakonjuDorna ChuGuillermo SerattiSusan Palasis

neurologypediatricsbrain imagingdiagnosisneuroscienceearly recognitionneuroimagingchild neurology

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Ai Sakonju, MD

Associate Professor

Upstate Medical University

Ai Sakonju, Md is currently serving as a Center For Development, Behavior And Genetics Associate Professor at Upstate Medical University.

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Ai Sakonju, MD

Upstate Medical University

Associate Professor

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

Case Series of Pediatric Patients With Neurological Complications in Setting of Mycoplasma Infection During Winter in Syracuse, New York. Journal of the Neurological Sciences (2025)

pediatricsinfectious diseasespediatric patientsneuropathologyinfectious diseases (medical specialty)new yorkcase series

Deep Brain Stimulation (Dbs) in Pediatric Dystonia: The Youngest Case of Neuromodulation for Refractory Acquired Dystonia and Status Dystonicus With 1-Year Follow-Up (P10-5.008). Neurology (2025)

Disp-12. Diagnostic Clues to Central Nervous System (Cns) Tumors in Children With Developmental Delay: A Case for System-Level Change. Neuro-Oncology (2025)

Rapid Genetic Testing in the Picu: Uncovering Col4A2-Related Gould Syndrome in Super-Refractory Status Epilepticus. BMJ Case Reports (2025)

P241: Expanding the Phenotype of Dream-Pl: A Case Report. Genetics in Medicine Open (2023)

Daniel MahoneyJennifer BlackNienke DosaAi SakonjuRobert Lebel

medical geneticsmedicinegenetics

EP184: Novel Kcna1 Pathogenic Variant Associated Syndrome of Episodic Dystonia and Electrophysiologic Myokymia - a Case Report. Genetics in Medicine (2022)

pathologygenetic disordersneurogeneticsmendelian disordercase reportelectrophysiologic myokymianeuropathologymuscular dystrophiesepisodic dystonia

Novel Kcna1 Variant Associated Syndrome of Episodic Dystonia and Electrophysiologic Myokymia - a Case Report (P13-13.009). Neurology (2022)

neurogeneticsmendelian disordercase reportelectrophysiologic myokymianeuroscienceneuropathologymuscular dystrophiesepisodic dystonia

Mai-Lan HoElaine C. WirrellKalliopi PetropoulouAi SakonjuDorna ChuGuillermo SerattiSusan Palasis

neurologypediatricsbrain imagingdiagnosisneuroscienceearly recognitionneuroimagingchild neurology

1
2
10 / page