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

DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome

Epileptic disorders : international epilepsy journal with videotape - 1 Oct 2022

De Souza Crippa Ana Chrystina, Franklin Gustavo L, Takeshita Bruno Toshio, Ghizoni Teive Hélio Afonso

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 Drug Resistant Epilepsy
Share to Dynamins
Share to Epilepsies, Myoclonic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Myoclonic Epilepsies, Progressive

Share to Seizures

Source

Identifiers

PMID: 35894675
DOI: 10.1684/epd.2022.1474

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndromePMID 35894675Read ↗

FADD gene pathogenic variants causing recurrent febrile infection‐related epilepsy syndrome: Case report and literature reviewSemantic proximity Read ↗

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.Semantic proximity Read ↗

Mesial temporal lobe epilepsy associated with KCNT1 mutation.Semantic proximity Read ↗

Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.Semantic proximity Read ↗

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.Semantic proximity Read ↗

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.Semantic proximity Read ↗

Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+).Semantic proximity Read ↗

Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.Semantic proximity Read ↗

Epileptic seizures as a presentation of central nervous system involvement in TTR Val30Met-FAP.Semantic proximity Read ↗

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutationSemantic proximity Read ↗

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