Neuroimaging and neuropathology of Dravet syndrome

Renzo Guerrini, Pasquale Striano, Claudia Catarino, Sanjay M. Sisodiya

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Brain magnetic resonance imaging (MRI) studies in patients with Dravet syndrome and SCN1A mutations have shown abnormal findings in a small minority of patients. The origin of the structural abnormalities-such focal brain atrophy, cortical dysplasia, and hippocampal sclerosis-observed in some children remains unclear. There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life. Recent descriptions of Rasmussen syndrome and of the hemiconvulsion-hemiplegia syndrome in isolated patients with SCN1A mutations are of uncertain meaning but might indicate that co-occurring immunomediated or seizure-induced structural changes can, in turn, become a substrate for the severe epileptic encephalopathy. The few available neuropathologic studies of Dravet syndrome have provided inconsistent findings, including evidence of subtle brain malformation. However, the underlying dysfunction of the SCN1A gene might confer to the brain a unique profile of vulnerability whose consequences are not easily disclosed by neuropathology and require specific experimental settings to be fully appreciated. There would seem to be value in studies in animal models of these aspects, as well as prospective studies in humans, with a particular view to establishing if earlier diagnosis and efforts at seizure control may influence the development of any clinical, imaging, or pathologic deterioration.

Original languageEnglish
Pages (from-to)30-34
Number of pages5
JournalEpilepsia
Volume52
Issue numberSUPPL. 2
DOIs
Publication statusPublished - Apr 2011

Fingerprint

Myoclonic Epilepsy
Neuroimaging
Seizures
Brain
Magnetic Resonance Imaging
Malformations of Cortical Development
Mutation
Hemiplegia
Status Epilepticus
Brain Diseases
Sclerosis
Encephalitis
Age of Onset
Atrophy
Early Diagnosis
Epilepsy
Animal Models
Prospective Studies
Neuropathology
Genes

Keywords

  • Dravet syndrome
  • MRI
  • Neuropathology
  • PET
  • SCN1A
  • Severe myoclonic epilepsy of infancy
  • SPECT

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Neuroimaging and neuropathology of Dravet syndrome. / Guerrini, Renzo; Striano, Pasquale; Catarino, Claudia; Sisodiya, Sanjay M.

In: Epilepsia, Vol. 52, No. SUPPL. 2, 04.2011, p. 30-34.

Research output: Contribution to journalArticle

Guerrini, Renzo ; Striano, Pasquale ; Catarino, Claudia ; Sisodiya, Sanjay M. / Neuroimaging and neuropathology of Dravet syndrome. In: Epilepsia. 2011 ; Vol. 52, No. SUPPL. 2. pp. 30-34.
@article{2c071fec5a934d3897dcf40daa032037,
title = "Neuroimaging and neuropathology of Dravet syndrome",
abstract = "Brain magnetic resonance imaging (MRI) studies in patients with Dravet syndrome and SCN1A mutations have shown abnormal findings in a small minority of patients. The origin of the structural abnormalities-such focal brain atrophy, cortical dysplasia, and hippocampal sclerosis-observed in some children remains unclear. There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life. Recent descriptions of Rasmussen syndrome and of the hemiconvulsion-hemiplegia syndrome in isolated patients with SCN1A mutations are of uncertain meaning but might indicate that co-occurring immunomediated or seizure-induced structural changes can, in turn, become a substrate for the severe epileptic encephalopathy. The few available neuropathologic studies of Dravet syndrome have provided inconsistent findings, including evidence of subtle brain malformation. However, the underlying dysfunction of the SCN1A gene might confer to the brain a unique profile of vulnerability whose consequences are not easily disclosed by neuropathology and require specific experimental settings to be fully appreciated. There would seem to be value in studies in animal models of these aspects, as well as prospective studies in humans, with a particular view to establishing if earlier diagnosis and efforts at seizure control may influence the development of any clinical, imaging, or pathologic deterioration.",
keywords = "Dravet syndrome, MRI, Neuropathology, PET, SCN1A, Severe myoclonic epilepsy of infancy, SPECT",
author = "Renzo Guerrini and Pasquale Striano and Claudia Catarino and Sisodiya, {Sanjay M.}",
year = "2011",
month = "4",
doi = "10.1111/j.1528-1167.2011.02998.x",
language = "English",
volume = "52",
pages = "30--34",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Blackwell Publishing Inc.",
number = "SUPPL. 2",

}

TY - JOUR

T1 - Neuroimaging and neuropathology of Dravet syndrome

AU - Guerrini, Renzo

AU - Striano, Pasquale

AU - Catarino, Claudia

AU - Sisodiya, Sanjay M.

PY - 2011/4

Y1 - 2011/4

N2 - Brain magnetic resonance imaging (MRI) studies in patients with Dravet syndrome and SCN1A mutations have shown abnormal findings in a small minority of patients. The origin of the structural abnormalities-such focal brain atrophy, cortical dysplasia, and hippocampal sclerosis-observed in some children remains unclear. There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life. Recent descriptions of Rasmussen syndrome and of the hemiconvulsion-hemiplegia syndrome in isolated patients with SCN1A mutations are of uncertain meaning but might indicate that co-occurring immunomediated or seizure-induced structural changes can, in turn, become a substrate for the severe epileptic encephalopathy. The few available neuropathologic studies of Dravet syndrome have provided inconsistent findings, including evidence of subtle brain malformation. However, the underlying dysfunction of the SCN1A gene might confer to the brain a unique profile of vulnerability whose consequences are not easily disclosed by neuropathology and require specific experimental settings to be fully appreciated. There would seem to be value in studies in animal models of these aspects, as well as prospective studies in humans, with a particular view to establishing if earlier diagnosis and efforts at seizure control may influence the development of any clinical, imaging, or pathologic deterioration.

AB - Brain magnetic resonance imaging (MRI) studies in patients with Dravet syndrome and SCN1A mutations have shown abnormal findings in a small minority of patients. The origin of the structural abnormalities-such focal brain atrophy, cortical dysplasia, and hippocampal sclerosis-observed in some children remains unclear. There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life. Recent descriptions of Rasmussen syndrome and of the hemiconvulsion-hemiplegia syndrome in isolated patients with SCN1A mutations are of uncertain meaning but might indicate that co-occurring immunomediated or seizure-induced structural changes can, in turn, become a substrate for the severe epileptic encephalopathy. The few available neuropathologic studies of Dravet syndrome have provided inconsistent findings, including evidence of subtle brain malformation. However, the underlying dysfunction of the SCN1A gene might confer to the brain a unique profile of vulnerability whose consequences are not easily disclosed by neuropathology and require specific experimental settings to be fully appreciated. There would seem to be value in studies in animal models of these aspects, as well as prospective studies in humans, with a particular view to establishing if earlier diagnosis and efforts at seizure control may influence the development of any clinical, imaging, or pathologic deterioration.

KW - Dravet syndrome

KW - MRI

KW - Neuropathology

KW - PET

KW - SCN1A

KW - Severe myoclonic epilepsy of infancy

KW - SPECT

UR - http://www.scopus.com/inward/record.url?scp=79953692733&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79953692733&partnerID=8YFLogxK

U2 - 10.1111/j.1528-1167.2011.02998.x

DO - 10.1111/j.1528-1167.2011.02998.x

M3 - Article

C2 - 21463276

AN - SCOPUS:79953692733

VL - 52

SP - 30

EP - 34

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - SUPPL. 2

ER -