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Neuroimage Clin. 2017 Jun 6;15:594-600. doi: 10.1016/j.nicl.2017.06.002. eCollection 2017.

Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Author information

1
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
2
Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
3
Department of Pediatrics, St. Vincent's Hospital, The Catholic University of Korea, Suwon, Republic of Korea.
4
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
5
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
6
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea. Electronic address: pednr@plaza.snu.ac.kr.
7
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address: tsko@amc.seoul.kr.

Abstract

OBJECTIVE:

Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim of this study was to investigate differences in brain morphometry in epileptic children with SCN1A mutation compared to healthy control subjects.

METHODS:

We obtained cortical morphology (thickness, and surface area) and brain volume (global, subcortical, and regional) measurements using FreeSurfer (version 5.3.0, https://surfer.nmr.mgh.harvard.edu) and compared measurements of children with epilepsy and SCN1A gene mutation (n = 21) with those of age and gender matched healthy controls (n = 42).

RESULTS:

Compared to the healthy control group, children with epilepsy and SCN1A gene mutation exhibited smaller total brain, total gray matter and white matter, cerebellar white matter, and subcortical volumes, as well as mean surface area and mean cortical thickness. A regional analysis revealed significantly reduced gray matter volume in the patient group in the bilateral inferior parietal, left lateral orbitofrontal, left precentral, right postcentral, right isthmus cingulate, right middle temporal area with smaller surface area and white matter volume in some of these areas. However, the regional cortical thickness was not significantly different in two groups.

SIGNIFICANCE:

This study showed large-scale developmental brain changes in patients with epilepsy and SCN1A gene mutation, which may be associated with the core symptoms of the patients. Further longitudinal MRI studies with larger cohorts are required to confirm the effect of SCN1A gene mutation on structural brain development.

KEYWORDS:

Brain volume; CSF, cerebrospinal fluid; Children; Epilepsy; GEFS +,  genetic epilepsy with febrile seizures plus; GM, gray matter; MRI, magnetic resonance imaging; Magnetic resonance imaging; SCN1A; SMEI, severe myoclonic epilepsy of infancy; Surface area; TIV, total intracranial volume; WM, white matter

PMID:
28664031
PMCID:
PMC5479971
DOI:
10.1016/j.nicl.2017.06.002
[Indexed for MEDLINE]
Free PMC Article

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