Evidence map›Paper›PMID 42286026›Full record

ArticleScientific reports2026

Assessment of gabapentin efficacy in patients with KCNQ2-developmental epileptic encephalopathy.

Juan Xiong, Xia You, Huazhen Li, Chen Chen, Haolin Duan, Shimeng Chen, Xiaoshuang Cao, Fang He, Yin Fei, Zhen Xiao and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Juan XiongDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.
Xia YouThe National and Local Joint Engineering Laboratory of Animal Peptide Drug Development, College of Life Sciences, Hunan Normal University, Changsha, 410081, China.
Huazhen LiThe National and Local Joint Engineering Laboratory of Animal Peptide Drug Development, College of Life Sciences, Hunan Normal University, Changsha, 410081, China.
Chen ChenDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.
Haolin DuanDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.
Shimeng ChenDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.
Xiaoshuang CaoDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.
Fang HeDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.
Yin FeiDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.
Zhen XiaoThe National and Local Joint Engineering Laboratory of Animal Peptide Drug Development, College of Life Sciences, Hunan Normal University, Changsha, 410081, China. xiaozhen@hunnu.edu.cn.
Jing PengDepartment of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China. pengjing627@126.com.

Funding

Hunan Natural Science Foundation 2023JJ40436Hunan Natural Science Foundation 2023JJ41006National Natural Science Foundation of China 82301347Natural Science Foundation of Changsha City kq2208384
6 · The paper itself

Abstract

KCNQ2‑related developmental epileptic encephalopathy (KCNQ2‑DEE) is characterized by intractable epilepsy, cognitive impairment, and behavioral problems, highlighting the urgent need for precision therapies. This study aimed to promote the clinical application of gabapentin, a known Kv7 channel opener, in KCNQ2‑DEE by evaluating its efficacy in four patients carrying different KCNQ2 variants. Three patients with S6‑segment variants (p.A294V, p.F305I, p.F305del) showed clinical improvement in both seizure control and cognition following add‑on gabapentin. In contrast, the patient with the S4 variant p.L200P did not exhibit electroencephalographic improvement, although some developmental progress was noted. Functional analysis in homomeric expression systems revealed that the three S6 variants produced negligible currents, consistent with severe loss‑of‑function (LoF). The p.L200P variant, however, showed smaller currents than wild‑type (WT) at voltages below + 20 mV, larger currents at higher voltages, slower activation kinetics, and a depolarized shift in half‑activation voltage (V₁/₂), indicating a mixed LoF/gain‑of‑function phenotype. In heteromeric Kv7.2/Kv7.3 channels, p.L200P retained significantly higher current compared to the S6 variants, which may explain the poorer response to gabapentin in this patient. Together, these findings further support gabapentin as a potential precision therapy for a subset of KCNQ2‑DEE patients, addressing an unmet clinical need.

Indexed as

AnticonvulsantsEpilepsyGabapentinKCNQ2 Potassium ChannelChildChild, PreschoolElectroencephalographyFemaleHumansMaleTreatment OutcomeAnticonvulsantsGabapentinKCNQ2 Potassium ChannelKCNQ2 protein, humanBehavior problemCognitive impairmentEpilepsyGabapentinKCNQ2

Identifiers

PMID42286026
PMCPMC13518877

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.