J. Pinard

Publications73
h-index17
Citations2,291
Highly Influential Citations73
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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome
X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females… Expand
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Diffuse cortical dysplasia, or the 'double cortex' syndrome
Diffuse neuronal migration disorders associated with epilepsy can now be recognized by modern neuroimaging techniques, particularly high-resolution MRI. We report 10 patients with a recently… Expand
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doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mental… Expand
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Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
Objective: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we… Expand
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The location of DCX mutations predicts malformation severity in X-linked lissencephaly
Lissencephaly spectrum (LIS) is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. Approximately 80% of patients with the LIS… Expand
  • 38
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LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
OBJECTIVE With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion,… Expand
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Hot Water Epilepsy: A Benign and Unrecognized Form
Hot water epilepsy is a reflex epilepsy. Seizures are provoked by hot water, and result from the association of both cutaneous and heat stimuli. Described mainly in India and Japan, the condition… Expand
  • 35
  • 3
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
Background Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of… Expand
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Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with severe mental retardation… Expand
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Callosotomy for Epilepsy After West Syndrome
Summary: Purpose: To analyze the results of callosotomy in 17 children with symptomatic generalized epilepsy after West syndrome, according to the different seizure types and surgical procedures, to… Expand
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