Volume 27, Issue 3 pp. 489-491

MULTIMEDIA TEACHING MATERIAL

Open Access

Persistence of EEG abnormalities in KCNT1-related DEE in an adult patient

Haania Kakwan,

Corresponding Author

Haania Kakwan

[email protected]

orcid.org/0000-0002-3880-6507

Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

Correspondence

Haania Kakwan, UT Southwestern Medical Center, Dallas, TX, USA.

Email: [email protected]

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Omar Nofal,

Omar Nofal

Epilepsy Section, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Doyle Yuan,

Doyle Yuan

Epilepsy Section, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Irfan S. Sheikh,

Irfan S. Sheikh

Epilepsy Section, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Haania Kakwan,

Corresponding Author

Haania Kakwan

[email protected]

orcid.org/0000-0002-3880-6507

Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

Correspondence

Haania Kakwan, UT Southwestern Medical Center, Dallas, TX, USA.

Email: [email protected]

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Omar Nofal,

Omar Nofal

Epilepsy Section, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Doyle Yuan,

Doyle Yuan

Epilepsy Section, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Irfan S. Sheikh,

Irfan S. Sheikh

Epilepsy Section, Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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First published: 05 April 2025

https://doi.org/10.1002/epd2.70018

Irfan S. Sheikh is a senior author.

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The KCNT1 gene encodes a sodium-activated potassium channel, with variants causing developmental/epileptic encephalopathies (DEEs) and intractable epilepsies.^{1, 2} EEGs characteristically reveal multi-focal interictal discharges migrating through contiguous cortical regions.³ We demonstrate multi-focal interictal discharges (left parietal, left frontal, right centroparietal, and right parieto-occipital) amidst a disorganized, slow background in a 20-year-old female with a heterozygous likely pathogenic KCNT1 variant (p.L281I; c.841C>A) and DEE (Figures 1 and 2). EEG available at https://hub.eegtalk.com/go/KCNT1. Seizures developed at age 6, followed by developmental regression, precocious puberty, and behavioral/psychiatric disturbances. Cardiac arrhythmias and pulmonary hemorrhage have also been reported.⁴ Presently, she experiences five to six focal seizures without impaired awareness weekly on lacosamide. Quinidine, thought to control seizures and slow developmental regression in KCNT1-related epilepsies, is no longer recommended and was discontinued.^{5, 6} A recent trial has not proven its efficacy despite carrying significant risks of arrhythmia.⁷ Although well-described in children, we demonstrate these EEG findings' persistence into adulthood.

Details are in the caption following the image — **FIGURE 1**
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(LFF 1 Hz HFF 70 Hz Notch 60 Hz Sens 30 μV/mm TB 30 mm/s) EEG showing multifocal discharges in the setting of a poorly organized generalized delta slowing EEG background. (A, B) Show independent sharp waves from P7/P3/Pz (red arrows) and independent left frontal FP1/AF7/F7/F3 sharp waves (blue arrows). (C, D) Showing independent sharp waves from P3/C3 (black arrows) and independent right P4/P8/O2 (purple arrows).

CONFLICT OF INTEREST STATEMENT

Irfan S. Sheikh is the assistant program leader for the Epileptic Disorders Journal Internship Program, is an Associate Editor for the journal, and has collaboration with EEGHub. Doyle Yuan has collaboration with EEGHub. Other authors report no disclosures.

Open Research

DATA AVAILABILITY STATEMENT

The data that support the findings of this study are openly available in EEGHub at https://hub.eegtalk.com/go/KCNT1.

Supporting Information

REFERENCES

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Test yourself

The KCNT1 gene encodes
1. A voltage-gated sodium channel
2. A voltage gated potassium channel
3. A sodium-activated potassium channel
4. A potassium-activated sodium channel
EEG characteristically shows
1. Focal discharges
2. Multifocal discharges
3. Temporal discharges
4. Bilateral discharges
Which of these can be seen in KCNT1-related epilepsy
1. Cardiac arrhythmias, precocious puberty, behavioral disturbances, developmental regression
2. Cardiomyopathy, precocious puberty, behavioral disturbances, developmental regression
3. Cardiac arrhythmias, infertility, behavioral disturbances, developmental regression
4. Cardiac arrhythmias, precocious puberty, behavioral disturbances, interstitial lung disease

Answers may be found in the Supporting information.

Volume27, Issue3

June 2025

Pages 489-491

Filename	Description
epd270018-sup-0001-Test_Yourself_Answers.docxWord 2007 document , 17.1 KB	Data S1
epd270018-sup-0002-Educational_slides.pptxPowerPoint 2007 presentation , 979.1 KB	Data S2

Persistence of EEG abnormalities in KCNT1-related DEE in an adult patient

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DATA AVAILABILITY STATEMENT

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Persistence of EEG abnormalities in KCNT1-related DEE in an adult patient

CONFLICT OF INTEREST STATEMENT

Open Research

DATA AVAILABILITY STATEMENT

Supporting Information

REFERENCES

Test yourself

Figures

References

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