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PDE
JIMD Podcast
A fortnightly podcast where authors discuss findings from recent papers and share the stories behind their work
Curtis R. Coughlin II
Last updated on Mar 4, 2022
1 min read
IEM
Pyridoxine-Dependent Epilepsy
Despite excellent seizure control with pyridoxine supplementation, most patients with pyridoxine-dependent epilepsy (PDE) have intellectual disability or developmental delay. The primary focus of our research is to improve the intellectual and developmental delays experienced by many patients.
PDE Consortium
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CHARLIE Project
The CHAnging Rare disorders of LysInE (CHARLIE) metabolism project is focused on develpoming new treatments for patients with pyridoxine-dependent epilepsy and glutaric aciduria type I. Novel therapies will be developed and validated using neuronal stem cells, zebrafish, and mouse models.
Join a research study
PDE is a treatable disorder of lysine metabolism
This webinair will focus on lysine reduction therapies for PDE-ALDH7A1. The lecture is available to all GMDI members.
Oct 7, 2021 1:00 PM
Virtual lecture
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
This article describes the cognitive and neurological features of a cohort of Dutch PDE-ALDH7A1 patients.
Strijker M
,
Tseng LA
,
van Avezaath LK
,
Oude Luttikhuis MAM
,
Ketelaar T
,
Coughlin CR 2nd
,
Coenen MA
,
van Spronsen FJ
,
Williams M
,
de Vries MC
,
Westerlaan HE
,
Bok LA
,
van Karnebeek CDM
,
Lunsing RJ
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DOI
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency
The PDE Consortium consensus guidelines consisting of recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1.
Coughlin CR 2nd
,
Tseng LA
,
Abdenur JE
,
Ashmore C
,
Boemer F
,
Bok LA
,
Boyer M
,
Buhas D
,
Clayton PT
,
Das A
,
Dekker H
,
Evangeliou A
,
Feillet F
,
Footitt EJ
,
Gospe SM Jr
,
Hartmann H
,
Kara M
,
Kristensen E
,
Lee J
,
Lilje R
,
Longo N
,
Lunsing RJ
,
Mills P
,
Papadopoulou MT
,
Pearl PL
,
Piazzon F
,
Plecko B
,
Saini AG
,
Santra S
,
Sjarif DR
,
Stockler-Ipsiroglu S
,
Striano P
,
Van Hove JLK
,
Verhoeven-Duif NM
,
Wijburg FA
,
Zuberi SM
,
van Karnebeek CDM
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DOI
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
We identified a novel metabolite, 6-oxo-pipecolate (6-oxo-PIP), which accumulates in substantial amounts in blood, plasma, urine, and cerebral spinal fluid of individuals with PDE
Wempe MF
,
Kumar A
,
Kumar V
,
Choi YJ
,
Swanson MA
,
Friederich MW
,
Hyland K
,
Yue WW
,
Van Hove JLK
,
Coughlin CR 2nd
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DOI
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
This report provides a comprehensive overview of known ALDH7A1 mutations that cause PDE, and suggests that PDE may be more common than initially estimated.
Coughlin CR 2nd
,
Swanson MA
,
Spector E
,
Meeks NJL
,
Kronquist KE
,
Aslamy M
,
Wempe MF
,
van Karnebeek CDM
,
Gospe SM Jr
,
Aziz VG
,
Tsai BP
,
Gao H
,
Nagy PL
,
Hyland K
,
van Dooren SJM
,
Salomons GS
,
Van Hove JLK
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DOI
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
We present a phenotypic spectrum of antiquitin deficiency based on a literature review (2006 to 2015) of reports (n = 49) describing the clinical presentation of confirmed patients (n > 200) and a further six patient vignettes.
van Karnebeek CD
,
Tiebout SA
,
Niermeijer J
,
Poll-The BT
,
Ghani A
,
Coughlin CR 2nd
,
Van Hove JL.
,
Richter JW
,
Christen HJ
,
Gallagher R
,
Hartmann H
,
Stockler-Ipsiroglu S
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DOI
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
This observational study reports the use of triple therapy, which combines three effective components in this rare condition, and suggests that early diagnosis and treatment with this new triple therapy may ameliorate the cognitive impairment in PDE.
Coughlin CR 2nd
,
van Karnebeek CD
,
Al-Hertani W
,
Shuen AY
,
Jaggumantri S
,
Jack RM
,
Gaughan S
,
Burns C
,
Mirsky DM
,
Gallagher RC
,
Van Hove JL.
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DOI
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