Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.

Clinical genetics - 1 Jul 2020

Mir Ali, Hadab Safeya, Sammak Mohammed, Alhazmi Rami, Housawi Yousef, Bashir Shahid

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Infant
Share to Membrane Transport Proteins
Share to Metabolism, Inborn Errors
Share to Mitochondrial Precursor Protein Import Complex Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Spasms, Infantile

Source

Identifiers

PMID: 32369862
DOI: 10.1111/cge.13763

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.PMID 32369862Read ↗

Favorable Response to "Memantine" in a Child with GRIN2B Epileptic Encephalopathy.Semantic proximity Read ↗

Refractory Electrical Storm in a 50-Year-Old Man.Semantic proximity Read ↗

Dramatic response to lamotrigine in two patients with refractory epilepsy due to calcium channel mutationsSemantic proximity Read ↗

Perampanel treatment in Early-onset Epileptic Encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-upSemantic proximity Read ↗

Clinical review of genetic epileptic encephalopathies.Semantic proximity Read ↗

Generalized epileptic disorders: an update.Semantic proximity Read ↗

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.Semantic proximity Read ↗

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspectsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.