A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
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Epileptic Encephalopathies, CDKL5 Mutations, and Infantile Spasms
Pediatric Neurology Briefs, 2012 Researchers at the Mayo Clinic, Rochester, MN performed retrospective chart reviews of 6 children with epilepsy and CDKL5 mutations.
J Gordon Millichap
doaj +1 more source
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. [PDF]
, 2017 To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpileptic encephalopathies are a group of childhood epilepsies that display high
Arnadottir, Gudny A +19 more
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Developmental Outcome of West Syndrome
Pediatric Neurology Briefs, 2007 Medical records of 32 patients with cryptogenic West syndrome were reviewed for factors correlating with developmental outcome in a study at Saitama Children’s Medical Center, and the Jikei University School of Medicine, Tokyo, Japan.
J Gordon Millichap
doaj +1 more source
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium [PDF]
, 2015 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111205/1/epi12951 ...
Allen +15 more
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X-Linked Mental Retardation and Epilepsy Syndrome
Pediatric Neurology Briefs, 2002 A kindred of 7 affected male infants with an X-linked mental retardation and epilepsy syndrome (XMRE), distinct from X-linked West and other mental retardation-epilepsy syndromes, is reported from the University of Michigan, Ann Arbor, MI.
J Gordon Millichap
doaj +1 more source
Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms
Children, 2020 Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children in the middle of the first year of life. The pathophysiology of IS remains incompletely understood, despite the heterogeneity of
Remi Janicot +2 more
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Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms [PDF]
, 2010 Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner +2 more
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Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]
, 2017 Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N +7 more
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Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]
, 2017 PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review.
Ibekwe, RC +2 more
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