NDLI: Pyridoxine-dependent epilepsy: report on three families with neuropathology

Please wait, while we are loading the content...

$^{1}$H and $^{31}$P magnetic resonance spectroscopy in a rat model of chronic hepatic encephalopathy: in vivo longitudinal measurements of brain energy metabolism

Quantitative magnetic resonance imaging in patients with cirrhosis: a cross-sectional study

Clinical science workshop: targeting the gut-liver-brain axis

Neuroinflammation in liver disease: sessional talks from ISHEN

Introduction: current state of knowledge of hepatic encephalopathy

Current state of knowledge of hepatic encephalopathy (part I): newer treatment strategies for hyperammonemia in liver failure

Current state of knowledge of hepatic encephalopathy (part II): changes in brain white matter tracts integrity are associated with cognitive deficits in minimal hepatic encephalopathy

Current state of knowledge of hepatic encephalopathy (part III): non-absorbable disaccharides

Current state of knowledge of hepatic encephalopathy (Part V): clinical efficacy of L-ornithine-L-aspartate in the management of HE

Altered expression and localization of synaptophysin in developing cerebellar cortex of neonatal rats due to maternal diabetes mellitus

Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia

Delayed bradykinin postconditioning modulates intrinsic neuroprotective enzyme expression in the rat CA1 region after cerebral ischemia: a proteomic study

Gene expression profiling of brain cortex microvessels may support brain vasodilation in acute liver failure rat models

Altered urinary porphyrins and mercury exposure as biomarkers for autism severity in Egyptian children with autism spectrum disorder

Subchronic treatment with acai frozen pulp prevents the brain oxidative damage in rats with acute liver failure

Pyridoxine-dependent epilepsy: report on three families with neuropathology

Agomelatine reduces brain, kidney and liver oxidative stress but increases plasma cytokine production in the rats with chronic mild stress-induced depression

Timosaponin B-II ameliorates scopolamine-induced cognition deficits by attenuating acetylcholinesterase activity and brain oxidative damage in mice

Diagnosis of minimal hepatic encephalopathy in a tertiary care center from eastern Romania: validation of the psychometric hepatic encephalopathy score (PHES)

Metabolic Brain Disease : Volume 31, Issue 5, October 2016

Metabolic Brain Disease : Volume 31, Issue 3, June 2016

Metabolic Brain Disease : Volume 31, Issue 2, April 2016

Metabolic Brain Disease : Volume 31, Issue 1, February 2016

Metabolic Brain Disease : Volume 30

Metabolic Brain Disease : Volume 29

Metabolic Brain Disease : Volume 28

Metabolic Brain Disease : Volume 27

Metabolic Brain Disease : Volume 26

Metabolic Brain Disease : Volume 25

Metabolic Brain Disease : Volume 24

Metabolic Brain Disease : Volume 23

Metabolic Brain Disease : Volume 22

Metabolic Brain Disease : Volume 21

Metabolic Brain Disease : Volume 20

Metabolic Brain Disease : Volume 19

Metabolic Brain Disease : Volume 18

Metabolic Brain Disease : Volume 17

Metabolic Brain Disease : Volume 16

Metabolic Brain Disease : Volume 15

Metabolic Brain Disease : Volume 14

Metabolic Brain Disease : Volume 13

Metabolic Brain Disease : Volume 12

Pyridoxine-dependent epilepsy: report on three families with neuropathology

Content Provider	Springer Nature Link
Author	Marguet, Florent Barakizou, Hager Tebani, Abdellah Abily Donval, Lenaig Torre, Stéphanie Bayoudh, Fethi Jebun, Sami Brasseur Daudruy, Marie Marret, Stéphane Laquerriere, Annie Bekri, Soumeya
Copyright Year	2016
Abstract	Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities. We report on five patients with PDE from three unrelated families. The diagnosis was confirmed by ALDH7A1 sequencing, which allowed for the characterization of two homozygous variations [NM_001182.3:c.1279G > C - p.(Glu427Gln) and c.834G > A - p.(Val278Val)]. Brain autopsy was conducted for one untreated patient with molecularly confirmed antiquitin deficiency. Macroscopic and histological examination revealed a combination of lesions resulting from recurrent seizures and consisting of extensive areas of cortical necrosis, gliosis, and hippocampic sclerosis. The examination also revealed developmental abnormalities including corpus callosum dysgenesis and corticospinal pathfinding anomalies. This case is the second to be reported in the literature, and our findings show evidence that antiquitin is required for normal brain development and functioning. Despite prophylactic prenatal pyridoxine supplementation during the last trimester of pregnancy in one of the three families and sustained pyridoxine treatment in three living patients, the clinical outcome remained poor with delayed acquisition of neurocognitive skills. Combined therapy (pyridoxine/arginine supplementation and lysine-restricted diet) should be considered early in the course of the disease for a better long-term outcome. Enhanced knowledge of PDE features is required to improve treatment strategies.
Starting Page	1435
Ending Page	1443
Page Count	9
File Format	PDF
ISSN	08857490
Journal	Metabolic Brain Disease
Volume Number	31
Issue Number	6
e-ISSN	15737365
Language	English
Publisher	Springer US
Publisher Date	2016-07-20
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Pyridoxine-dependent epilepsy Antiquitin Neuropathology Molecular analyses Long-term outcome Neurosciences Neurology Metabolic Diseases Biochemistry Oncology
Content Type	Text
Resource Type	Article
Subject	Biochemistry Neurology (clinical) Cellular and Molecular Neuroscience

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

Data from: Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy (Dataset)

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria

Glial Localization of Antiquitin: Implications for Pyridoxine-Dependent Epilepsy

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome

Gene therapy for epilepsy

Molecular Mechanisms of the Alterations in NMDA Receptor-Dependent Long-Term Potentiation in Hyperammonemia

Does abnormal glycogen structure contribute to increased susceptibility to seizures in epilepsy?

Pyridoxine-dependent epilepsy: report on three families with neuropathology

Similar Documents

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

Data from: Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy (Dataset)

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria

Glial Localization of Antiquitin: Implications for Pyridoxine-Dependent Epilepsy

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome

Gene therapy for epilepsy

Molecular Mechanisms of the Alterations in NMDA Receptor-Dependent Long-Term Potentiation in Hyperammonemia

Does abnormal glycogen structure contribute to increased susceptibility to seizures in epilepsy?

Pyridoxine-dependent epilepsy: report on three families with neuropathology