Acta Paediatrica · 1968 · 83 citations · 6 references
MedicineNeurologyPediatricsHuman GeneticsNeonatologyNeurogeneticsNeonatal NeurologyNeurodevelopmental DisordersAutosomal Dominant InheritanceNeonatal ConvulsionsNeonatal Presentation
Summary A family is reported where during the neonatal period convulsions have appeared in not less than 14 members in five generations. It appears to be an autosomal dominant trait. The disorder is benign and the convulsions have disappeared in the first weeks with a few exceptions, where sporadic convulsions have appeared up to 10 years of age. The etiology is at present unknown and there are no signs of disturbance in electrolyte or sugar balance or in amino‐acid metabolism.
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Familial intrauterine convulsions in pyridoxine dependency.
M Bejsovec, Z Kulenda, E Ponca · Archives of Disease in Childhood · 1967 · 74 citations · Full text
Medicine, Neurology, Pediatrics +9
SIGNS OF PYRIDOXINE DEPENDENCY MANIFEST AT BIRTH IN SIBLINGS
Clara Waldinger, Robert B. Berg · PEDIATRICS · 1963 · 41 citations
Vitamin B<sub>6</sub> Metabolism in Pyridoxine Dependency with Seizures
J. Gentz, Arne Hamfelt, S. Johansson et al. · Acta Paediatrica · 1967 · 29 citations
Medicine, Neurology, Pharmacology +12