Evidence map›Paper›PMID 42175547›Full record

ArticleAnnals of clinical and translational neurology2026

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy.

Amanda G Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L Massey, Mark P Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S Abend

Abstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Amanda G Sandoval KaramianDivision of Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0002-0813-1334
Tianjia ZhuDepartment of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0009-0001-4601-6062
Hao HuangDepartment of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Shavonne L MasseyDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0002-8496-221X
Mark P FitzgeraldDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0002-7121-0705
Darshana ParikhDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Arastoo VossoughDepartment of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0003-1346-427X
Ingo HelbigDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0001-8486-0558
Nicholas S AbendDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0001-6166-2663

Funding

Structural Development of Human Fetal BrainR01MH092535 · NIMH · UT SOUTHWESTERN MEDICAL CENTER · PI HUANG, HAO · 2011 to 2020
$4.6M
A computational phenotyping approach to characterize neurogenetic disordersR01NS131512 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8M
Subgroup delineation in genetic epilepsies and developmental brain disordersR01NS127830 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8M
NIH HHS R01MH092535NIMH NIH HHS R01 MH092535NINDS NIH HHS R01 NS127830NINDS NIH HHS R01 NS131512Pediatric Epilepsy Research Foundation
6 · The paper itself

Abstract

objectiveRecent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique opportunity to determine whether neonates experiencing seizures have abnormal white matter structure.

methodsThis was a retrospective case-control study of term neonates treated in a level IV NICU between 2013 and 2020. Cases had confirmed or suspected genetic epilepsy, normal MRI, and no conditions known to independently impact white matter. Healthy controls had normal MRI and no relevant clinical diagnoses. White matter was assessed via fractional anisotropy (FA) and mean diffusivity (MD) from Diffusion Tensor Imaging (DTI) using Tract Based Spatial Statistics (TBSS).

resultsFifty-eight neonates (19 cases, 39 controls) were included. There was significantly increased FA and decreased MD in the superior corona radiata of neonates with genetic epilepsy compared to healthy controls, controlling for sex and postmenstrual age at time of MRI. Additional association tracts (anterior and posterior corona radiata, tapetum, external capsule, superior and inferior fronto-occipital fasciculus) approached significance (p < 0.2). There was no significant correlation between mean FA or MD and EEG seizure burden or developmental outcome.

interpretationWhite matter microstructure is abnormal, with higher FA and lower MD, in major association tracts of neonates with genetic epilepsy compared to healthy controls. These results indicate that white matter is impacted early in neonatal epilepsies, emphasizing the global impact of early-onset seizures.

Indexed as

genetic epilepsyneonatal seizureswhite matter

Identifiers

PMID42175547
PMCPMC13394097

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.