Rose F. Kennedy Intellectual and Developmental Disabilities Research Center

Neurogenetic & Seizure Disorders

Neurogenetic (including neurometabolic and neurodevelopmental) and seizure disorders represent a significant proportion of those conditions causing IDD in children. Included here are well-defined single gene defect diseases (e.g., Rett, Angelman & Sanfilippo Syndromes, Niemann-Pick Type C disease, neurofibromatosis type I) and also disorders whose etiology is not yet fully defined  (e.g., infantile spasms). Although most of these conditions are themselves rare, as a group they represent an enormous health burden on affected children, their families and society.  Significant efforts are under way by RFK IDDRC investigators and clinicians to better understand the pathogenic and genetic mechanisms underlying these disorders and to develop new and innovative treatments for affected children.

RFK IDDRC investigator laboratories and clinics at Einstein and its affiliated hospitals are making contributions related to neurogenetic and seizure disorders and to the basic neurobiology and genetics underlying these conditions:

 

Velocardiofacial Syndrome (DiGeorge Syndrome)

Morrow, Bernice (Genetics)

Related clinics:
CHAM Clinical Services-Craniofacial Center
 

Neuronal Stem Cells


Frenette, Paul (Medicine)
Dobrenis, Kostantin (Neuroscience)

Neurofibromatosis


Hebert, Jean (Neurology)
Kalpana, Gankam (Genetics)
Levy, Adam (Pediatrics)
Marion, Robert (Pediatrics)
Zukin, Suzanne (Neuroscience)

Related clinics:
CHAM Clinical Services-Genetics 

 
 
 

Niemann-Pick Type C, Sanfilippo, Batten and Other Lysosomal Disorders

Carroll, Reed (Neuroscience)
Dobrenis, Kostantin (Neuroscience)
Levy, Paul (Pediatrics)
Marion, Robert (Pediatrics)
Walkley, Steven (Neuroscience)

Related clinics:
CHAM Clinical Services-Genetics 

Neuron-Neuron and Neuron-Glia Interactions

Bennett, Michael (Neuroscience)
Bukauskas, Feliksas (Neuroscience)
Dobrenis, Kostantin (Neuroscience)
Faber, Donald (Neuroscience)
Francesconi, Anna (Neuroscience)
Hiroi, Noburu (Psychiatry)
Spray, David (Neuroscience)
Verselis, Vytautas (Neuroscience)
Zukin, R. Suzanne (Neuroscience)
 

Synaptic Mechanisms of Learning and Memory

Akabas, Myles (Physiology & Biophysics)
Bennett, Michael (Neuroscience)
Bukauskas, Feliksas (Neuroscience)
Carroll, Reed (Neuroscience)
Castillo, Pablo (Neuroscience)
Faber, Donald (Neuroscience)
Francesconi, Anna (Neuroscience)
Pereda, Alberto (Neuroscience)
Zukin, R. Suzanne (Neuroscience)
 
 
 

Normal and Abnormal Brain Development


Abrahams, Brett (Genetics)
Emmons, Scott (Genetics)
Hall, David (Neuroscience)
Hebert, Jean (Neurology)
Jordan, Bryen (Neuroscience)
Kaprelian, Zaven (Pathology)
Mehler, Mark (Neurology)
Molero, Aldrin (Neurology)
Morrow, Bernice (Genetics)
Walkley, Steven (Neuroscience)
 

Seizure Disorders


Galanopoulou, Aristea (Neurology)
Moshé, Solomon (Neurology)
Shinnar, Shlomo (Neurology)
Steinschneider, Mitchell (Neurology)

Related clinics:

CERC Specialized Service Programs 

CHAM Clinical Services-Epilepsy Management Center 

CHAM Clinical Services-Neurology Epilepsy and Autism 

Rett, Angelman, Williams, Kallmann and Fragile X Syndromes

Buelow, Hannes (Genetics)
Djukic, Aleksandra (Neurology)
Francesconi, Anna (Neuroscience)
Galanopoulou, Aristea (Neurology)
Greally, John (Genetics)
Gulinello, Maria (Neuroscience)
Hiroi, Noburu (Psychiatry)
Levy, Adam (Pediatrics)
Levy, Paul (Pediatrics)
Marion, Robert (Pediatrics)
Samanich, Joy (Pediatrics)
Shulman, Lisa (Pediatrics)
Walkley, Steven (Neuroscience)
Zukin, R. Suzanne (Neuroscience)

Related clinics:

CERC Specialized Service Programs 

The Children's Hospital at Montefiore (CHAM) 

CHAM Clinical Services-The Williams Syndrome Center 

CHAM Clnical Services-Rett Syndrome Center 

 
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