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Human Epilepsy Genetics - Mosaic Mutations in Focal Epilepsy

Award Number: R37NS035129
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 12/01/1997
PERIOD OF PERFORMANCE END DATE: 11/30/2028

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Human Epilepsy Genetics - Mosaic Mutations in Focal Epilepsy - Project Summary: Epilepsy is a debilitating disease affecting 1 in 26 people (3-4% lifetime risk), making it the third most common neurological disorder in the United States. Antiepileptic drugs (AEDs) remain the mainstay of epilepsy therapy, but the long-term sequelae of uncontrolled epilepsy, including underachievement, social isolation, and heightened rates of depression and sudden death, bring into consideration more aggressive strategies for patients whose disease is recalcitrant to pharmacotherapy. The most prevalent form of intractable, non-lesional focal epilepsy in adults is mesial temporal lobe epilepsy (mTLE), and the causal mechanisms of mTLE remain poorly understood. mTLE often starts in adolescence or early adulthood, often following a history of earlier febrile seizures or head trauma, and often becoming more intractable with time. Sclerotic changes of the hippocampus (HS) often appear radiographically. With proper localization, mTLE is amenable to surgical intervention, resulting in seizure freedom or improvement in up to two thirds of cases. Our preliminary data, based on the genomic study of these resected tissues samples, implicate somatic activating variants in multiple RAS pathway genes in mTLE. The major goals of this study are to: sequence larger numbers of mTLE samples resected for epilepsy control, in order to confirm and extend our preliminary findings on the role of RAS activation in mTLE, and to identify other potential genetic regulators of mTLE; delineate the transcriptional effects of somatic mutation on specific cell types within the epileptic tissue ; and to identify the exact cell type(s) that carry mosaic variants, and the transcriptional effects on those variant- positive cells, compared to surrounding variant-negative cells in mTLE. Our prior experience in the development, use, and analysis of single cell genomic data, together with our promising preliminary data on mTLE and the availability of high-quality samples in-hand, indicate a high likelihood that this study will be successful. Our proposed work promises to provide valuable insight into the genetic causes of mTLE. It will further use that information to investigate the molecular mechanisms underlying epilepsy.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $855,104 )
2026	2026	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	27	3/18/2026	NON-COMPETING CONTINUATION	$85,509
2026	2026	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	27	1/15/2026	NON-COMPETING CONTINUATION	$769,595
														Subtotal = $855,104

Issue Date FY: 2025 ( Subtotal = $883,490 )
2025	2025	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	26	11/28/2024	COMPETING CONTINUATION	$910,212
2025	2025	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	26	3/20/2025	COMPETING CONTINUATION	-$26,722
														Subtotal = $883,490

Issue Date FY: 2008 ( Subtotal = $666,462 )
2008	2008	CHILDREN'S HOSPITAL CORPORATION	300 LONGWOOD AVENUE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	11	3/6/2008	NON-COMPETING CONTINUATION	$666,462
														Subtotal = $666,462

Issue Date FY: 2007 ( Subtotal = $666,722 )
2007	2007	CHILDREN'S HOSPITAL CORPORATION	300 LONGWOOD AVENUE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	10	6/19/2007	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$666,722
														Subtotal = $666,722

Issue Date FY: 2006 ( Subtotal = $688,433 )
2006	2006	BETH ISRAEL DEACONESS MEDICAL CENTER, INC	1 DEACONESS ROAD, DEA 220	BOSTON	MA	02215	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	9	4/10/2006	EXTENSION WITH OR WITHOUT FUNDS	$688,433
														Subtotal = $688,433

Issue Date FY: 2005 ( Subtotal = $683,747 )
2005	2005	BETH ISRAEL DEACONESS MEDICAL CENTER, INC	1 DEACONESS ROAD, DEA 220	BOSTON	MA	02215	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	8	2/24/2005	NON-COMPETING CONTINUATION	$683,747
														Subtotal = $683,747

Issue Date FY: 2004 ( Subtotal = $790,468 )
2004	2004	BETH ISRAEL HOSPITAL	330 BROOKLINE AVENUE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	7	2/20/2004	NON-COMPETING CONTINUATION	$666,059
2004	2004	BETH ISRAEL HOSPITAL	330 BROOKLINE AVENUE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	7	8/23/2004	SUPPLEMENT FOR EXPANSION	$74,409
2004	2004	BETH ISRAEL HOSPITAL	330 BROOKLINE AVENUE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	7	7/26/2004	SUPPLEMENT FOR EXPANSION	$50,000
														Subtotal = $790,468

Issue Date FY: 2003 ( Subtotal = $652,141 )
2003	2003	BETH ISRAEL HOSPITAL	330 BROOKLINE AVENUE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	6		NON-COMPETING CONTINUATION	$652,141
														Subtotal = $652,141

Issue Date FY: 2002 ( Subtotal = $687,661 )
2002	2002	BETH ISRAEL HOSPITAL	330 BROOKLINE AVENUE	BOSTON	MA	02115	SUFFOLK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	5	3/7/2002	COMPETING CONTINUATION	$687,661
														Subtotal = $687,661

Grand Total All Awards = $6,574,228

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Human Epilepsy Genetics - Mosaic Mutations in Focal Epilepsy

Award Number: R37NS035129

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 12/01/1997

PERIOD OF PERFORMANCE END DATE: 11/30/2028

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