Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386822660> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W4386822660 abstract "Case presentation: We conducted a descriptive study of 4 cases with GLUT1 Deficiency (Glut1D) diagnosed in our service in the past 2 years. The diagnosis was established by: hypoglycorrhachia, clinical symptoms and SLC2A1 mutation. Our first patient, a 4-year-old boy, presented with developmental delay, hypotonia, myoclonic jerks and drop attacks at 11 months of age. MRI brain image showed bilateral hippocampal atrophy. Valproic acid and clobazam were started with partial seizures control. After introduction of ketogenic diet (KD), the patient achieved full seizure control, and anti-seizures drugs were discontinued. The second case is a 7-year-old boy, with seizures started at 3 months of age, characterized by generalized hypotonia and eye deviation. He had a delay of motor and language milestones and failed to achieve seizure control despite treatment with oxcarbazepine, valproic acid and levetiracetam. After the initiation of KD, a better seizure control and an improvement of muscle tone, speech and coordination were noticed. The third case is a 2-year-old girl, with tonic-clonic seizures started at 2 months of life. Diagnosis of Glut1D was established right after the first seizures, and she achieved an excellent control with levetiracetam and KD. Her development has been normal since. A 5-year-old girl is the fourth case, and presented with hypotonia, delay of speech and gait disturbance noticed around 1 year of age. Treatment with valproic acid and clobazam achieved partial control of seizures. Glut1D was diagnosed 3 years later, and better seizure control was noticed 1 year after the initiation of KD associated with levetiracetam." @default.
- W4386822660 created "2023-09-19" @default.
- W4386822660 creator A5012012119 @default.
- W4386822660 creator A5014413779 @default.
- W4386822660 creator A5016788075 @default.
- W4386822660 creator A5018883882 @default.
- W4386822660 creator A5028765460 @default.
- W4386822660 creator A5076029985 @default.
- W4386822660 creator A5080206009 @default.
- W4386822660 creator A5081971365 @default.
- W4386822660 creator A5092893314 @default.
- W4386822660 date "2023-09-01" @default.
- W4386822660 modified "2023-09-26" @default.
- W4386822660 title "Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series" @default.
- W4386822660 doi "https://doi.org/10.1055/s-0043-1774530" @default.
- W4386822660 hasPublicationYear "2023" @default.
- W4386822660 type Work @default.
- W4386822660 citedByCount "0" @default.
- W4386822660 crossrefType "proceedings-article" @default.
- W4386822660 hasAuthorship W4386822660A5012012119 @default.
- W4386822660 hasAuthorship W4386822660A5014413779 @default.
- W4386822660 hasAuthorship W4386822660A5016788075 @default.
- W4386822660 hasAuthorship W4386822660A5018883882 @default.
- W4386822660 hasAuthorship W4386822660A5028765460 @default.
- W4386822660 hasAuthorship W4386822660A5076029985 @default.
- W4386822660 hasAuthorship W4386822660A5080206009 @default.
- W4386822660 hasAuthorship W4386822660A5081971365 @default.
- W4386822660 hasAuthorship W4386822660A5092893314 @default.
- W4386822660 hasBestOaLocation W43868226601 @default.
- W4386822660 hasConcept C104317684 @default.
- W4386822660 hasConcept C118552586 @default.
- W4386822660 hasConcept C127716648 @default.
- W4386822660 hasConcept C185592680 @default.
- W4386822660 hasConcept C187212893 @default.
- W4386822660 hasConcept C2777172819 @default.
- W4386822660 hasConcept C2777332695 @default.
- W4386822660 hasConcept C2777907850 @default.
- W4386822660 hasConcept C2778186239 @default.
- W4386822660 hasConcept C2778587478 @default.
- W4386822660 hasConcept C2779546488 @default.
- W4386822660 hasConcept C2779674439 @default.
- W4386822660 hasConcept C2779888125 @default.
- W4386822660 hasConcept C42219234 @default.
- W4386822660 hasConcept C55493867 @default.
- W4386822660 hasConcept C71924100 @default.
- W4386822660 hasConceptScore W4386822660C104317684 @default.
- W4386822660 hasConceptScore W4386822660C118552586 @default.
- W4386822660 hasConceptScore W4386822660C127716648 @default.
- W4386822660 hasConceptScore W4386822660C185592680 @default.
- W4386822660 hasConceptScore W4386822660C187212893 @default.
- W4386822660 hasConceptScore W4386822660C2777172819 @default.
- W4386822660 hasConceptScore W4386822660C2777332695 @default.
- W4386822660 hasConceptScore W4386822660C2777907850 @default.
- W4386822660 hasConceptScore W4386822660C2778186239 @default.
- W4386822660 hasConceptScore W4386822660C2778587478 @default.
- W4386822660 hasConceptScore W4386822660C2779546488 @default.
- W4386822660 hasConceptScore W4386822660C2779674439 @default.
- W4386822660 hasConceptScore W4386822660C2779888125 @default.
- W4386822660 hasConceptScore W4386822660C42219234 @default.
- W4386822660 hasConceptScore W4386822660C55493867 @default.
- W4386822660 hasConceptScore W4386822660C71924100 @default.
- W4386822660 hasLocation W43868226601 @default.
- W4386822660 hasOpenAccess W4386822660 @default.
- W4386822660 hasPrimaryLocation W43868226601 @default.
- W4386822660 hasRelatedWork W1749480618 @default.
- W4386822660 hasRelatedWork W1967940919 @default.
- W4386822660 hasRelatedWork W2497704760 @default.
- W4386822660 hasRelatedWork W2557182899 @default.
- W4386822660 hasRelatedWork W2605250317 @default.
- W4386822660 hasRelatedWork W2923242857 @default.
- W4386822660 hasRelatedWork W4280561384 @default.
- W4386822660 hasRelatedWork W4285534605 @default.
- W4386822660 hasRelatedWork W4365483397 @default.
- W4386822660 hasRelatedWork W4366548694 @default.
- W4386822660 isParatext "false" @default.
- W4386822660 isRetracted "false" @default.
- W4386822660 workType "article" @default.