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Newborn screening for pyridoxine-dependent epilepsy
This lecture will focus on newborn screening for PDE including data from pilot screening and how PDE meets Wilson Jungner screening criteria
Oct 3, 2023 10:00 AM
Boston, MA
The time has come for newborn screening for pyridoxine-dependent epilepsy
This lecture will focus on the impact of neonatal treatment and developmental outcomes and new biomarkers for PDE-ALDH7A1. The lecture is prested by Drs. Coughlin, Tseng, and van Karnebeek on behalf of the
International PDE Consortium
.
Sep 1, 2022 12:45 PM
Freiburg im Breisgau, Germany
Association between lysine reduction therapies and cognitive outcomes in patients with pyridoxine-dependent epilepsy
In this international cohort study, we demonstrated that treatment with pyridoxine and lysine reduction therapy started in the first six months of life is associated with a significant increase in developmental test scores (21.9 points 95th CI 1.7 to 42.0)
Coughlin CR 2nd
,
Tseng LA
,
Bok LA
,
Hartmann H
,
Footitt E
,
Striano P
,
Tabarki BM
,
Lunsing RJ
,
Stockler-Ipsiroglu S
,
Gordon S
,
Van Hove JLK
,
Abdenur JE
,
Boyer M
,
Longo N
,
Andrews A
,
Janssen MC
,
van Wegberg A
,
Prasad C
,
Prasad AN
,
Lamb MM
,
Wijburg FA
,
Gospe Jr SM
,
van Karnebeek C
,
International PDE Consoritum
Cite
DOI
A case for newborn screening for pyridoxine-dependent epilepsy
This commentary argues that pyridoxine-dependent epilepsy (PDE-ALDH7A1) meets the classic criteria for newborn screening and should be considered for addition to current screening programs.
Coughlin CR 2nd
,
Tseng LA
,
van Karnebeek CDM
DOI
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
This case series reports the clinical outcomes in 11 adults with PDE-ALDH7A1, which furthers our understanding of this treatable disorder.
Tseng LA
,
Teela L
,
Janssen MC
,
Bok LA
,
Willemsen MAAP
,
Neuteboom RF
,
Haverman L
,
Gospe SM Jr
,
Coughlin CR 2nd
,
van Karnebeek CDM
Cite
DOI
Clinical Reasoning: Pediatric Seizures of Unknown Cause
These clinical observations highlight the importance of evaluating patients for PDE-ALDH7A1 in the setting of seizures of unknown origin with partial or no response to common anti-epileptic medication.
Tseng LA
,
Hoytema van Konijnenburg EM
,
Longo N
,
Andrews A
,
van Wegberg A
,
Coene KL
,
Coughlin CR 2nd
,
van Karnebeek CDM
Cite
DOI
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
This case series describes the clinical outcome in 18 families with PDE-ALDH7A1 and demonstrates that early in life, even antenatal, treatment with pyridoxine is not sufficient for normal development.
Tseng LA
,
Abdenur JE
,
Andrews A
,
Aziz VG
,
Bok LA
,
Boyer M
,
Buhas D
,
Hartmann H
,
Footitt EJ
,
Gronborg S
,
Janssen MCH
,
Longo N
,
Lunsing RJ
,
MacKenzie AE
,
Wijburg FA
,
Gospe SM Jr
,
Coughlin CR 2nd
,
van Karnebeek CDM
Cite
DOI
Pyridoxine-dependent epilepsy: Towards newborn screening
This lecture will focus on NBS for PDE. Drs. Laura Tseng and Curtis Coughlin will review data from the
PDE Consortium
and discuss how PDE meets the current criteria for NBS.
Jan 27, 2022 12:45 PM
Amsterdam, Netherlands
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.
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