Meet the team
Research
Publications
Talks
Posts
Contact
Light
Dark
Automatic
2
Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
This review discusses the advances in diagnosis and treatment for patients with pyridoxine-dependent epilepsy since the initial case description 70 years ago.
Coughlin CR 2nd
,
Gospe Jr SM
Cite
DOI
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
Defining the critical components of informed consent for genetic testing.
The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing.
Ormond KE
,
Borensztein MJ
,
Hallquist MLG
,
Buchanan AH
,
Faucett WA
,
Peay HL
,
Smith ME
,
Tricou EP
,
Uhlmann WR
,
Wain KE
,
Coughlin CR 2nd
Cite
DOI
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
Cite
DOI
Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases
We detail our approach to intravenous management for metabolic patients and its underlying rationale. This generally entails a combination of intravenous glucose and lipid as well as early introduction of protein and essential vitamins.
Kripps KA
,
Baker PR 2nd
,
Thomas JA
,
Skillman HE
,
Bernstein L
,
Gaughan S
,
Burns C
,
Coughlin CR 2nd
,
McCandless SE
,
Larson AA
,
Kochar A
,
Stillman CF
,
Wymore EM
,
Hendricks EG
,
Woontner M
,
Van Hove JLK
Cite
DOI
Application of a framework to guide genetic testing communication across clinical indications
The CADRe recommendations provide guidance for clinicians in determining the depth of pre- and post-test communication, strategically aligning the anticipated needs of patients with the starting communication approach
Hallquist MLG
,
Tricou EP
,
Ormond KE
,
Savatt JM
,
Coughlin CR 2nd
,
Faucett WA
,
Hercher L
,
Levy HP
,
O'Daniel JM
,
Peay HL
,
Stosic M
,
Smith M
,
Uhlmann WR
,
Wand H
,
Wain KE
,
Buchanan AH
Cite
DOI
»
Cite
×