Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
American journal of medical genetics. Part A
, 2012 Dec: 158A(12)3190-5
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Molecular genetics and metabolism
, 2012 Nov: 107(3)335-44
Natural history of pyridoxine-dependent epilepsy: tools for prognostication.
Developmental medicine and child neurology
, 2012 Sep: 54(9)781-2
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
American journal of human genetics
, 2012 Mar 9: 90(3)457-66
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Molecular genetics and metabolism
, 2011 Sep-Oct: 104(1-2)48-60
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Molecular genetics and metabolism
, 2011 Sep-Oct: 48-60
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.
Pediatric neurology
, April 2011: : 289-91
Pyridoxine-dependent epilepsy
S Shorvon, R Guerrini, F. Andermann (Eds.) The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children
, 2011: 237-241
Redefining outcome of first seizures by acute illness.
Pediatrics
, Dec. 2010: : e1477-84
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Neuromuscular disorders : NMD
, Aug. 2010: : 499-504
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Developmental medicine and child neurology
, July 2010: : 602-3
Neonatal vitamin-responsive epileptic encephalopathies.
Chang Gung medical journal
, Jan. 2010: : 1-12
Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
Journal of neuroscience methods
, Oct. 2009: : 136-41
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
European journal of pediatrics
, June 2009: : 697-704
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia
, May 2009: : 1167-75
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.
Developmental medicine and child neurology
, May 2009: : 408-11
Other organic chemicals
MR Dobbs (Ed.) Clinical Neurotoxicology: Syndromes, Substances, Environments
, 2009: 415-420
Organic solvents
MR Dobbs (Ed.) Clinical Neurotoxicology: Syndromes, Substances, Environments
, 2009: 401-414
Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure.
Reproductive toxicology (Elmsford, N.Y.)
, Jan. 2009: : 22-7
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
Muscle & nerve
, Feb. 2007: : 254-8
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
Current opinion in neurology
, April 2006: : 148-53
Nonhuman primate models of intrauterine cytomegalovirus infection.
ILAR journal / National Research Council, Institute of Laboratory Animal Resources
, 2006: : 49-64
Hospital pharmacy and emergency department availability of parenteral pyridoxine.
Pediatric emergency care
, Sept. 2005: : 586-8
Nonfebrile illness seizures: a unique seizure category?
Epilepsia
, June 2005: : 952-5
Seizures, syncope, or breath-holding presenting to the pediatric neurologist--when is the etiology a life-threatening arrhythmia?
Seminars in pediatric neurology
, March 2005: : 2-9
Pyridoxine-dependent seizures and cognition in adulthood.
Developmental medicine and child neurology
, Nov. 2003: : 782-5
Pyridoxine-dependent seizures: findings from recent studies pose new questions.
Pediatric neurology
, March 2002: : 181-5
Pyridoxine-Dependent Seizures
, 1993
Vitamin B6-Dependent Epilepsies
P Pearl (Ed.) Metabolic Epilepsies
, : in press