Juvenile onset niemann-pick type C disease with refractory seizures

Since the age of 12 years, she is also having generalised tonic-clonic seizures (3-5 episodes per month). [3] The NPC1 gene sequencing was done by Next Generation Sequencing (NGS) and detected mutations c. 352_353delAG in exon four resulting in a frameshift and premature truncation of the protein ei...

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Published inAnnals of the Indian Academy of Neurology Vol. 22; no. 4; pp. 539 - 540
Main Authors Kumawat, Banshi, Saini, Pankaj, Sharma, Chandra, Sharma, Manisha, Manu, L
Format Journal Article
LanguageEnglish
Published Mumbai Wolters Kluwer India Pvt. Ltd 01.10.2019
Medknow Publications and Media Pvt. Ltd
Medknow Publications & Media Pvt. Ltd
Wolters Kluwer - Medknow
Wolters Kluwer Medknow Publications
Subjects
Age
Amino acids
Antiepileptic agents
Ataxia
Atrophy
Brain diseases
Convulsions & seizures
Drug resistance
Dysphagia
Electroencephalography
Epilepsy
Eye movements
Gait
Genetic disorders
Letters to the Editor
Medical imaging
Metabolic disorders
Mutation
Next-generation sequencing
Niemann-Pick disease
NMR
Npc1 protein
Nuclear magnetic resonance
Patients
Seizures
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Summary:Since the age of 12 years, she is also having generalised tonic-clonic seizures (3-5 episodes per month). [3] The NPC1 gene sequencing was done by Next Generation Sequencing (NGS) and detected mutations c. 352_353delAG in exon four resulting in a frameshift and premature truncation of the protein eight amino acid downstream to codon 119, and c. 547G > C in exon 5 in the heterozygous state, confirming the diagnosis of NP-C disease [Supplementary Figure 1]. [7] Definition of drug-resistant epilepsy as proposed by the International League against Epilepsy (ILAE) task force [8] which defines it as “failure to achieve sustained seizure freedom even after adequate trials of two tolerated, appropriately chosen and used antiepileptic drug schedules (whether as monotherapies or in combination)” is applicable in this setting also.
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ISSN:0972-2327
1998-3549
DOI:10.4103/aian.AIAN_292_19