Infantile refractory seizures due to de novo KCNT 1 mutation

Mahdi Alsaleem; Vivien Carrion; Arie Weinstock; Praveen Chandrasekharan

doi:10.1136/bcr-2019-231178

Infantile refractory seizures due to de novo KCNT 1 mutation

Mahdi Alsaleem
, Vivien Carrion
, Arie Weinstock
, Praveen Chandrasekharan

University of Kansas
SUNY Buffalo

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant's condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

Original language	English
Article number	e231178
Journal	BMJ Case Reports
Volume	12
Issue number	10
DOIs	https://doi.org/10.1136/bcr-2019-231178
State	Published - Oct 1 2019

Keywords

epilepsy and seizures
neuro genetics
neurology (drugs and medicines)

Access to Document

10.1136/bcr-2019-231178

Cite this

@article{a29654fb9d884122a67c54b75b2acff2,

title = "Infantile refractory seizures due to de novo KCNT 1 mutation",

abstract = "We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant's condition improved with the combination of traditional as well non-traditional antiepileptic therapy.",

keywords = "epilepsy and seizures, neuro genetics, neurology (drugs and medicines)",

author = "Mahdi Alsaleem and Vivien Carrion and Arie Weinstock and Praveen Chandrasekharan",

note = "Publisher Copyright: {\textcopyright} 2019 BMJ Publishing Group Limited.",

year = "2019",

month = oct,

day = "1",

doi = "10.1136/bcr-2019-231178",

language = "English",

volume = "12",

journal = "BMJ Case Reports",

issn = "1757-790X",

publisher = "BMJ Publishing Group",

number = "10",

}

TY - JOUR

T1 - Infantile refractory seizures due to de novo KCNT 1 mutation

AU - Alsaleem, Mahdi

AU - Carrion, Vivien

AU - Weinstock, Arie

AU - Chandrasekharan, Praveen

PY - 2019/10/1

Y1 - 2019/10/1

N2 - We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant's condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

AB - We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant's condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

KW - epilepsy and seizures

KW - neuro genetics

KW - neurology (drugs and medicines)

UR - https://www.scopus.com/pages/publications/85074178197

U2 - 10.1136/bcr-2019-231178

DO - 10.1136/bcr-2019-231178

M3 - Article

C2 - 31653631

AN - SCOPUS:85074178197

SN - 1757-790X

VL - 12

JO - BMJ Case Reports

JF - BMJ Case Reports

IS - 10

M1 - e231178

ER -

Infantile refractory seizures due to de novo KCNT 1 mutation

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this