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

A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures.

Brain & development - 1 Mar 2018

Madaan Priyanka, Jauhari Prashant, Gupta Aparajita, Chakrabarty Biswaroop, Gulati Sheffali

Abstract excerpt

Epilepsy of infancy with migrating focal seizures {a.k.a malignant migrating partial seizures of infancy (MMPSI)} is an uncommon epileptic encephalopathy with a poor prognosis. Migrating focal seizures with autonomic features, developmental stagnation and refractoriness to treatment are its key features. It is caused by genetic defects in various ion channels, most common being sodium activated potassium channel...

Topics

Join the communities discussing this publication.

Electroencephalography
Enzyme Inhibitors
India
Potassium Channels
Potassium Channels, Sodium-Activated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spasms, Infantile

Source

Identifiers

PMID: 29037447
DOI: 10.1016/j.braindev.2017.09.008

Genes

KCNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures.PMID 29037447Read ↗

A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation.Semantic proximity Read ↗

Epilepsy of infancy with migrating focal seizures due to a novel homozygous mutation in KCNT1 gene: A case report.Semantic proximity Read ↗

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.Semantic proximity Read ↗

KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.Semantic proximity Read ↗

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.Semantic proximity Read ↗

Infantile refractory seizures due to de novo KCNT 1 mutation.Semantic proximity Read ↗

Quinidine therapy for West syndrome with KCNTI mutation: A case report.Semantic proximity Read ↗

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.Semantic proximity Read ↗

Malignant Migrating Partial Seizures of Infancy (MMPSI): Expansion of Clinical Phenotypic and Genotypic SpectraSemantic proximity Read ↗

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.Semantic proximity Read ↗

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.Semantic proximity Read ↗

Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children.Semantic proximity Read ↗

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